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
FBXO18	84893	broad.mit.edu	37	10	5960389	5960389	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr10:5960389C>T	ENST00000379999.5	+	14	2305	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	FBXO18_ENST00000397269.3_Missense_Mutation_p.A170V|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000362091.4_Missense_Mutation_p.A683V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	683					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTCCGGGGTGCGGTCAACGCC	0.537000													4	105					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28550178	28550178	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:28550178G>A	ENST00000344773.2	+	12	1264	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	0					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAGCCCGTGGGAGCAAGTCCT	0.617000													25	44					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38881624	38881624	+	Splice_Site	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr6:38881624G>A	ENST00000359357.3	+	65	9462		c.e65-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site					dynein, axonemal, heavy chain 8									p.?(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTTGTAAAGGTCTTGATAA	0.358000													11	34					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42614135	42614135	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:42614135G>A	ENST00000318010.8	+	11	1450	c.1210G>A	c.(1210-1212)Ggc>Agc	p.G404S		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	404					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GCACACTGAGGGCAAGAGGTA	0.463000													9	13					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63445429	63445429	+	Silent	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chrX:63445429C>T	ENST00000453546.1	-	10	1316	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ASB12_ENST00000396130.2_Silent_p.E25E|ASB12_ENST00000362002.2_Silent_p.E34E			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCTGCTTCTCCTCTGTGTCAG	0.493000													3	19					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33679950	33679950	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr17:33679950C>G	ENST00000394566.1	-	7	2403	c.2131G>C	c.(2131-2133)Gat>Cat	p.D711H	SLFN11_ENST00000308377.4_Missense_Mutation_p.D711H	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	711						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTGCAATCCAAGTGGCTG	0.483000													48	65					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147783	43147783	+	RNA	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr8:43147783C>T	ENST00000522175.2	+	0	158							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACGACGACAGCGCCTTCACGG	0.607000													23	50					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87470169	87470169	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr8:87470169A>G	ENST00000517970.1	+	22	2721	c.2414A>G	c.(2413-2415)cAg>cGg	p.Q805R	WWP1_ENST00000349423.2_Missense_Mutation_p.Q587R|WWP1_ENST00000265428.4_Missense_Mutation_p.Q805R|WWP1_ENST00000341922.2_Missense_Mutation_p.Q675R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	805	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTGGCATGCAGGAGGTTGAC	0.373000													29	43					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527804	43527804	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:43527804A>G	ENST00000220420.5	-	10	1584	c.1577T>C	c.(1576-1578)gTc>gCc	p.V526A	TGM5_ENST00000349114.4_Missense_Mutation_p.V444A	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	526					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCCAGCAGGACAAAGCATAT	0.567000													11	20					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37153542	37153542	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr20:37153542G>A	ENST00000262879.6	+	11	2025	c.1741G>A	c.(1741-1743)Gtg>Atg	p.V581M	RALGAPB_ENST00000397042.3_Missense_Mutation_p.V581M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V581M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V359M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	581					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATTGATGTTGTGGTTCCTTA	0.408000													51	99					0	0	1	0	0
MAL	4118	broad.mit.edu	37	2	95713828	95713828	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:95713828A>G	ENST00000309988.4	+	2	327	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.Y73C	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	73	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		ATCATCCTGTACATAATTGGA	0.622000													10	31					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													5	25					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35154325	35154325	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr21:35154325C>G	ENST00000381318.3	+	16	2000	c.1712C>G	c.(1711-1713)gCc>gGc	p.A571G	ITSN1_ENST00000399353.1_Missense_Mutation_p.A534G|ITSN1_ENST00000399355.2_Missense_Mutation_p.A571G|ITSN1_ENST00000399367.3_Missense_Mutation_p.A571G|ITSN1_ENST00000399338.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399326.3_Missense_Mutation_p.A571G|ITSN1_ENST00000437442.2_Missense_Mutation_p.A571G|ITSN1_ENST00000381285.4_Missense_Mutation_p.A571G|ITSN1_ENST00000381291.4_Missense_Mutation_p.A571G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Missense_Mutation_p.A571G|ITSN1_ENST00000399349.1_Missense_Mutation_p.A571G|ITSN1_ENST00000399352.1_Missense_Mutation_p.A571G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	571	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTTAAAAGAGCCTTAGAAGCA	0.348000													13	26					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168281192	168281192	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr6:168281192G>T	ENST00000366806.2	+	6	1034	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	MLLT4_ENST00000351017.4_Missense_Mutation_p.A298S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297S|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383000			T	MLL	AL								24	65					1.10923e-09	1.20167e-09	1	1	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	27					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19983717	19983717	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chrX:19983717G>T	ENST00000379687.3	-	3	752	c.719C>A	c.(718-720)cCt>cAt	p.P240H	CXorf23_ENST00000379682.4_Missense_Mutation_p.P240H|CXorf23_ENST00000356980.3_Missense_Mutation_p.P240H	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	240						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GGAATGCTCAGGCTTCCACTT	0.502000													4	95					0.000602214	0.000626303	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	58					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115434	168115434	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:168115434T>A	ENST00000409728.1	+	11	2566	c.2477T>A	c.(2476-2478)gTg>gAg	p.V826E	XIRP2_ENST00000409756.2_Missense_Mutation_p.V793E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.V793E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826E|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGCAGTCCTGTGCAGCCTGCT	0.443000													15	27					0	0	1	0	0
MAL	4118	broad.mit.edu	37	2	95713830	95713830	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:95713830A>G	ENST00000309988.4	+	2	329	c.220A>G	c.(220-222)Ata>Gta	p.I74V	MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.I74V	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	74	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	p.I74V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CATCCTGTACATAATTGGAGC	0.622000													9	31					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8207347	8207347	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr4:8207347G>C	ENST00000382521.3	+	3	326	c.256G>C	c.(256-258)Gca>Cca	p.A86P	SH3TC1_ENST00000245105.3_Intron|SH3TC1_ENST00000539824.1_Intron			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	446							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AACAAAACTGGCAAAGAACGA	0.567000													8	18					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46765604	46765604	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr11:46765604C>A	ENST00000529230.1	-	44	6114	c.6068G>T	c.(6067-6069)aGa>aTa	p.R2023I	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1963I|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1963I|CKAP5_ENST00000415402.1_Missense_Mutation_p.R2030I			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	2023					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTCCAGTCTTTTTTTCAA	0.473000													6	61					0.00307968	0.00307968	1	1	0
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251	by1000genomes	TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582000													4	32					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43389775	43389775	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr3:43389775C>T	ENST00000296088.7	+	7	2328	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	SNRK_ENST00000429705.2_Missense_Mutation_p.S675F|SNRK_ENST00000437827.1_Missense_Mutation_p.S469F|SNRK_ENST00000454177.1_Missense_Mutation_p.S675F	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	675					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTGTCATTTTCCAGTGTGAAA	0.498000													7	54					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	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				7	18	---	---	---	---					
OR52N5	390075	broad.mit.edu	37	11	5799652	5799652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr11:5799652delA	ENST00000317093.2	-	1	245	c.213delT	c.(211-213)ttfs	p.F71fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F71fs*59(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGCATGGCCAAAAAAAAAAT	0.428													7	26	---	---	---	---					
SMAD6	4091	broad.mit.edu	37	15	66996088	66996090	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:66996088_66996090delGCT	ENST00000288840.5	+	1	1523_1525	c.492_494delGCT	c.(490-495)cgg>cg	p.RL164del	SMAD6_ENST00000457357.2_In_Frame_Del_p.RL164del	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	164	MH1.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CGCGCTCGCGGCTGCTGCTGCTG	0.759													2	4	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccc>cc	p.PCCAPS45del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	45	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													6	13	---	---	---	---