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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
COL17A1	1308	broad.mit.edu	37	10	105816869	105816895	+	In_Frame_Del	DEL	GCCACCAACACCGCCACCTCCTCCACT	GCCACCAACACCGCCACCTCCTCCACT	-	rs150527933	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	GCCACCAACACCGCCACCTCCTCCACT	GCCACCAACACCGCCACCTCCTCCACT	-	-	GCCACCAACACCGCCACCTCCTCCACT	GCCACCAACACCGCCACCTCCTCCACT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:105816869_105816895delGCCACCAACACCGCCACCTCCTCCACT	ENST00000353479.5	-	17	1593_1619	c.1303_1329delAGTGGAGGAGGTGGCGGTGTTGGTGGC	c.(1303-1329)agtggaggaggtggcggtgttggtggcdel	p.SGGGGGVGG435del	COL17A1_ENST00000369733.3_In_Frame_Del_p.SGGGGGVGG435del	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	435	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		cgccgccagcgccaccaacaccgccacctcctccactgccaccacca	0.639		NA											False	1	False	10:105816869	0
MS4A14	84689	broad.mit.edu	37	11	60165353	60165354	+	Frame_Shift_Del	DEL	TT	TT	-	rs3217518		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:60165353_60165354delTT	ENST00000300187.6	+	2	444_445	c.167_168delTT	c.(166-168)attfs	p.I56fs	MS4A14_ENST00000395005.2_Frame_Shift_Del_p.I56fs|MS4A14_ENST00000531783.1_Frame_Shift_Del_p.I56fs|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	56						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCTCTAATCATTGTGGGCTTTG	0.48		NA											False	2	False	11:60165353	0
MYL6	4637	broad.mit.edu	37	12	56552366	56552379	+	Frame_Shift_Del	DEL	GAGTTTGTGGGTCA	GAGTTTGTGGGTCA	-	rs17097849		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	GAGTTTGTGGGTCA	GAGTTTGTGGGTCA	-	-	GAGTTTGTGGGTCA	GAGTTTGTGGGTCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:56552366_56552379delGAGTTTGTGGGTCA	ENST00000536128.1	+	1	221_234	c.181_194delGAGTTTGTGGGTCA	c.(181-195)gagtttgtgggtcagfs	p.EFVGQ61fs	MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000548400.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000549566.1_Frame_Shift_Del_p.EFVGQ61fs|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548293.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CCTGAAACAGGAGTTTGTGGGTCAGAGTTTGTGG	0.57		NA											False	1	True	12:56552366	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
TDRD3	81550	broad.mit.edu	37	13	61102576	61102578	+	In_Frame_Del	DEL	ATA	ATA	-	rs148917045		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	ATA	ATA	-	-	ATA	ATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr13:61102576_61102578delATA	ENST00000196169.3	+	11	1726_1728	c.938_940delATA	c.(937-942)gataat>gat	p.N315del	TDRD3_ENST00000377881.2_In_Frame_Del_p.N315del|TDRD3_ENST00000535286.1_In_Frame_Del_p.N408del|TDRD3_ENST00000377894.2_In_Frame_Del_p.N315del	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	315					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGAGTAAAAGATAATAATCATCT	0.384		NA											False	2	False	13:61102576	0
MYCBP2	23077	broad.mit.edu	37	13	77672728	77672729	+	Frame_Shift_Ins	INS	-	-	CAAAGGA			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr13:77672728_77672729insCAAAGGA	ENST00000544440.2	-	56	8463_8464	c.8446_8447insTCCTTTG	c.(8446-8448)agtfs	p.S2816fs	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.S339fs|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.S2854fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.S2816fs			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGCAGTACTTTTTTGAGGT	0.47		NA											False	0	True	13:77672728	0
L3HYPDH	112849	broad.mit.edu	37	14	59942913	59942914	+	Frame_Shift_Ins	INS	-	-	GAACATTCTGTCTTCATTTATTCTGAAA			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr14:59942913_59942914insGAACATTCTGTCTTCATTTATTCTGAAA	ENST00000487285.1	-	3	384_385	c.184_185insTTTCAGAATAAATGAAGACAGAATGTTC	c.(184-186)gatfs	p.D62fs	L3HYPDH_ENST00000247194.4_Frame_Shift_Ins_p.D233fs					L-3-hydroxyproline dehydratase (trans-)	NA											NA						GTCTTCACTATCAGGATGATTA	0.297		NA											False	0	False	14:59942913	0
SPTA1	6708	broad.mit.edu	37	1	158607956	158607957	+	Frame_Shift_Ins	INS	-	-	GAAGATAG			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:158607956_158607957insGAAGATAG	ENST00000368148.3	-	36	5235_5236	c.5055_5056insCTATCTTC	c.(5053-5058)gtgaagfs	p.K1686fs	SPTA1_ENST00000368147.3_Frame_Shift_Ins_p.K1686fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1686					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTTTTTCTTCACAATCTGAT	0.436		NA											False	0	False	1:158607956	0
ADAM21P1	0	broad.mit.edu	37	14	70713721	70713723	+	RNA	DEL	ATC	ATC	-	rs72159324		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	ATC	ATC	-	-	ATC	ATC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr14:70713721_70713723delATC	ENST00000530196.1	-	0	795_797					NR_003951.1					NA											NA						AAATGAAGAAATCATGGTTCACC	0.424		NA											False	1	True	14:70713721	0
DNM1P46	0	broad.mit.edu	37	15	100340143	100340207	+	RNA	DEL	TGCCTGCTCTGCCGACTCCTCCAGGAGTGTCTTCTCGTTCCCACGCGAGTCTCGTCGCGCCGCTG	TGCCTGCTCTGCCGACTCCTCCAGGAGTGTCTTCTCGTTCCCACGCGAGTCTCGTCGCGCCGCTG	-	rs113166086	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	TGCCTGCTCTGCCGACTCCTCCAGGAGTGTCTTCTCGTTCCCACGCGAGTCTCGTCGCGCCGCTG	TGCCTGCTCTGCCGACTCCTCCAGGAGTGTCTTCTCGTTCCCACGCGAGTCTCGTCGCGCCGCTG	-	-	TGCCTGCTCTGCCGACTCCTCCAGGAGTGTCTTCTCGTTCCCACGCGAGTCTCGTCGCGCCGCTG	TGCCTGCTCTGCCGACTCCTCCAGGAGTGTCTTCTCGTTCCCACGCGAGTCTCGTCGCGCCGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:100340143_100340207delTGCCTGCTCTGCCGACTCCTCCAGGAGTGTCTTCTCGTTCCCACGCGAGTCTCGTCGCGCCGCTG	ENST00000341853.1	-	0	719_783					NR_003260.1					NA											NA						CTCCTTGGTCTGCCTGCTCTGCCGACTCCTCCAGGAGTGTCTTCTCGTTCCCACGCGAGTCTCGTCGCGCCGCTGTGCCTGCTCT	0.619		NA											False	1	False	15:100340143	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
SAP30BP	29115	broad.mit.edu	37	17	73664694	73664695	+	Frame_Shift_Ins	INS	-	-	AGAGTTACAAT			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:73664694_73664695insAGAGTTACAAT	ENST00000584667.1	+	2	462_463	c.205_206insAGAGTTACAAT	c.(205-207)agtfs	p.S69fs	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Frame_Shift_Ins_p.S69fs	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	69					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGATGAGAACAGTAGACAGTCG	0.441		NA											False	0	False	17:73664694	0
HAUS1	115106	broad.mit.edu	37	18	43704829	43704830	+	In_Frame_Ins	INS	-	-	TAAAACACAACAAAGCATTAACATTAGTAT			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:43704829_43704830insTAAAACACAACAAAGCATTAACATTAGTAT	ENST00000282058.6	+	7	788_789	c.708_709insTAAAACACAACAAAGCATTAACATTAGTAT	c.(709-711)aaa>TAAAACACAACAAAGCATTAACATTAGTATaaa	p.236_237ins*NTTKH*H*Y	HAUS1_ENST00000585518.1_In_Frame_Ins_p.105_105K>IKHNKALTLV*|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	236					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTTTGAAGAAAAAATTGGAGTC	0.351		NA											False	0	True	18:43704829	0
CTD-2620I22.1	0	broad.mit.edu	37	19	53472679	53472682	+	RNA	DEL	CACT	CACT	-	rs111348428		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	CACT	CACT	-	-	CACT	CACT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:53472679_53472682delCACT	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA						NA											NA						GGCTCTGTCACACTCATCACACTT	0.426		NA											False	1	False	19:53472679	0
CXorf66	347487	broad.mit.edu	37	X	139038471	139038472	+	Frame_Shift_Ins	INS	-	-	TGAGGCAAAGGAGA			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:139038471_139038472insTGAGGCAAAGGAGA	ENST00000370540.1	-	3	692_693	c.669_670insTCTCCTTTGCCTCA	c.(667-672)aatgaafs	p.E224fs		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	224						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTGAGATTTCATTTTGTGGAT	0.441		NA											False	0	True	X:139038471	0
GEN1	348654	broad.mit.edu	37	2	17962994	17962998	+	Frame_Shift_Del	DEL	AAGTT	AAGTT	-	rs79148917		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	AAGTT	AAGTT	-	-	AAGTT	AAGTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:17962994_17962998delAAGTT	ENST00000381254.2	+	14	2729_2733	c.2515_2519delAAGTT	c.(2515-2520)aagttgfs	p.KL839fs	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Frame_Shift_Del_p.KL839fs	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	839					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGCCATAACAAGTTGAGTAGCCCT	0.371		NA						Homologous recombination					False	1	False	2:17962994	0
MAP4K4	9448	broad.mit.edu	37	2	102314997	102314998	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:102314997_102314998insA	ENST00000413150.2	+	2	175_176	c.120_121insA	c.(121-123)aagfs	p.K41fs	MAP4K4_ENST00000456652.1_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000347699.4_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000324219.4_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000350198.4_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000302217.5_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000425019.1_Frame_Shift_Ins_p.K41fs	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	41	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACAAGTCTATAAGGTCGGTGT	0.515		NA											False	2	False	2:102314997	0
ESPNP	0	broad.mit.edu	37	1	17034456	17034463	+	RNA	DEL	GCGCGCGT	GCGCGCGT	-	rs58726851		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	GCGCGCGT	GCGCGCGT	-	-	GCGCGCGT	GCGCGCGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:17034456_17034463delGCGCGCGT	ENST00000492551.1	-	0	304_311					NR_026567.1					NA											NA						CGTCGTGGGCGCGCGCGTGCGGGTCCGC	0.726		NA											False	1	True	1:17034456	0
BARD1	580	broad.mit.edu	37	2	215645503	215645523	+	In_Frame_Del	DEL	TGGTGAAGAACATTCAGGCAA	TGGTGAAGAACATTCAGGCAA	-	rs138745646	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	TGGTGAAGAACATTCAGGCAA	TGGTGAAGAACATTCAGGCAA	-	-	TGGTGAAGAACATTCAGGCAA	TGGTGAAGAACATTCAGGCAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:215645503_215645523delTGGTGAAGAACATTCAGGCAA	ENST00000260947.4	-	4	1209_1229	c.1075_1095delTTGCCTGAATGTTCTTCACCA	c.(1075-1095)ttgcctgaatgttcttcaccadel	p.LPECSSP359del	BARD1_ENST00000449967.2_In_Frame_Del_p.LPECSSP215del	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	359					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCATGAAGGTGGTGAAGAACATTCAGGCAATGGTATATTT	0.421		NA							Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	1	False	2:215645503	0
ZNF660	285349	broad.mit.edu	37	3	44636431	44636432	+	In_Frame_Ins	INS	-	-	ACTTTTTTTCCTCTGTGCATTCGCTGATGT			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:44636431_44636432insACTTTTTTTCCTCTGTGCATTCGCTGATGT	ENST00000322734.2	+	3	1079_1080	c.746_747insACTTTTTTTCCTCTGTGCATTCGCTGATGT	c.(745-750)aatgag>aaACTTTTTTTCCTCTGTGCATTCGCTGATGTtgag	p.249_249N>KLFFLCAFADV	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TACAAATGTAATGAGTGTGGGA	0.371		NA											False	0	False	3:44636431	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
TTC14	151613	broad.mit.edu	37	3	180327850	180327851	+	Frame_Shift_Ins	INS	-	-	TGGAACTGGGT	rs76254787		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:180327850_180327851insTGGAACTGGGT	ENST00000296015.4	+	12	1965_1966	c.1833_1834insTGGAACTGGGT	c.(1834-1836)aaafs	p.K612fs	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	612							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAGGTAGTAGCAAAACAGAAAA	0.361		NA											False	0	True	3:180327850	0
ATP13A5	344905	broad.mit.edu	37	3	193040341	193040342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:193040341_193040342insC	ENST00000342358.4	-	15	1813_1814	c.1696_1697insG	c.(1696-1698)gacfs	p.D566fs		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	566					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTTGCAGGAGTCTACAATGCAA	0.317		NA											False	1	False	3:193040341	0
RBM46	166863	broad.mit.edu	37	4	155719080	155719081	+	Frame_Shift_Ins	INS	-	-	CTAATTGGATATTTGTACTCACTATTCAA			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:155719080_155719081insCTAATTGGATATTTGTACTCACTATTCAA	ENST00000510397.1	+	3	448_449	c.269_270insCTAATTGGATATTTGTACTCACTATTCAA	c.(268-273)tttcgafs	p.R91fs	RBM46_ENST00000514866.1_Frame_Shift_Ins_p.R91fs|RBM46_ENST00000281722.3_Frame_Shift_Ins_p.R91fs	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	91	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATATATGAATTTCGACTTATGA	0.351		NA											False	0	True	4:155719080	0
GHR	2690	broad.mit.edu	37	5	42718677	42718678	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:42718677_42718678insAA	ENST00000230882.4	+	10	1258_1259	c.1068_1069insAA	c.(1069-1071)actfs	p.T357fs	GHR_ENST00000537449.1_Frame_Shift_Ins_p.T170fs|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Frame_Shift_Ins_p.T335fs	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	357					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGATGAAAAGACTGAGGAATC	0.431		NA											False	1	False	5:42718677	0
GHR	2690	broad.mit.edu	37	5	42718679	42718680	+	Frame_Shift_Ins	INS	-	-	TCATAATAATTAAATGAATTAGCAAATAATGTTCAGAGATTAATTA			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:42718679_42718680insTCATAATAATTAAATGAATTAGCAAATAATGTTCAGAGATTAATTA	ENST00000230882.4	+	10	1260_1261	c.1070_1071insTCATAATAATTAAATGAATTAGCAAATAATGTTCAGAGATTAATTA	c.(1069-1074)actgagfs	p.E358fs	GHR_ENST00000537449.1_Frame_Shift_Ins_p.E171fs|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Frame_Shift_Ins_p.E336fs	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	358					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GATGAAAAGACTGAGGAATCAG	0.431		NA											False	0	False	5:42718679	0
CHD1	1105	broad.mit.edu	37	5	98192165	98192167	+	In_Frame_Del	DEL	AGG	AGG	-	rs79267787		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:98192165_98192167delAGG	ENST00000284049.3	-	35	5199_5201	c.5050_5052delCCT	c.(5050-5052)cctdel	p.P1684del		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1684					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.P1684delP(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGGAGCCATAAGGAGATCTCTGA	0.453		NA											False	1	False	5:98192165	0
EPB41L4A	64097	broad.mit.edu	37	5	111506659	111506660	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:111506659_111506660delCT	ENST00000261486.5	-	19	1928_1929	c.1652_1653delAG	c.(1651-1653)gagfs	p.E551fs	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	551						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GCTTCCATAACTCTTCTTTTGC	0.347		NA											False	2	False	5:111506659	0
SDCBP	6386	broad.mit.edu	37	8	59488619	59488620	+	Splice_Site	INS	-	-	TTAAC			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:59488619_59488620insTTAAC	ENST00000523483.1	+	6	1975_1976	c.461_462insTTAAC	c.(460-465)aatggt>aaTTAACtggt	p.G155fs	SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000422546.2_Splice_Site_p.G134fs|SDCBP_ENST00000413219.2_Splice_Site_p.G135fs|SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000424270.2_Splice_Site_p.G129fs|SDCBP_ENST00000447182.2_Splice_Site_p.G134fs|SDCBP_ENST00000260130.4_Splice_Site_p.G135fs			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	135	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCAATAGATAATGTAAGTATTT	0.272		NA											False	0	False	8:59488619	0
SLC39A4	55630	broad.mit.edu	37	8	145642141	145642144	+	Frame_Shift_Del	DEL	CAGC	CAGC	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	CAGC	CAGC	-	-	CAGC	CAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:145642141_145642144delCAGC	ENST00000301305.3	-	1	135_138	c.30_33delGCTG	c.(28-33)gggctgfs	p.GL10fs		NM_130849.2	NP_570901.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	10						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGCCAGAAGCAGCCCCAGCTCCA	0.676		NA											False	1	True	8:145642141	0
GOLGA2	2801	broad.mit.edu	37	9	131022880	131022881	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:131022880_131022881insA	ENST00000421699.2	-	17	1552_1553	c.1540_1541insT	c.(1540-1542)tggfs	p.W514fs		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	514						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTGCTCCCCCCAGAGCTCGGCC	0.653		NA											False	1	True	9:131022880	0
FOXA1	3169	broad.mit.edu	37	14	38061592	38061592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr14:38061592C>T	ENST00000250448.2	-	2	458	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	FOXA1_ENST00000540786.1_Missense_Mutation_p.A100T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	133					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGGTTCATGGCGGCCGCGTAG	0.736		NA											False	0	False	14:38061592	0
SECISBP2L	9728	broad.mit.edu	37	15	49288724	49288724	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:49288724C>A	ENST00000559471.1	-	17	2726	c.2463G>T	c.(2461-2463)atG>atT	p.M821I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M776I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	821										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTGCTGCAACCATATCTTTAT	0.408		NA											False	0	False	15:49288724	0
QTRTD1	79691	broad.mit.edu	37	3	113804663	113804663	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:113804663A>G	ENST00000281273.4	+	10	1417	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C	QTRTD1_ENST00000493014.1_Missense_Mutation_p.Y281C|QTRTD1_ENST00000479882.1_Missense_Mutation_p.Y264C|QTRTD1_ENST00000485050.1_Missense_Mutation_p.Y399C	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	387					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TTTGAACACTACTTTGGGTTT	0.463		NA											False	0	False	3:113804663	0
CYP4F22	126410	broad.mit.edu	37	19	15662205	15662205	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:15662205C>T	ENST00000269703.3	+	14	1718	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R507W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	NA						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCGCAAGGTGCGGCGGAAGCC	0.672		NA											False	0	False	19:15662205	0
SLC52A1	55065	broad.mit.edu	37	17	4937373	4937373	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:4937373G>T	ENST00000512825.2	-	3	1822	c.411C>A	c.(409-411)agC>agA	p.S137R	SLC52A1_ENST00000424747.1_Missense_Mutation_p.S137R|SLC52A1_ENST00000254853.5_Missense_Mutation_p.S137R			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	137						integral to plasma membrane	receptor activity|riboflavin transporter activity				NA						GTGGCAGGTGGCTCAGGAAGG	0.592		NA											False	0	False	17:4937373	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)		GGGGGCAGCTCGTGGTGAGGC	0.567		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)			False	0	False	17:7577046	0
LCT	3938	broad.mit.edu	37	2	136564940	136564940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:136564940G>A	ENST00000264162.2	-	9	3941	c.3931C>T	c.(3931-3933)Cga>Tga	p.R1311*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1311	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACATACCCTCGAAGGTCTATA	0.522		NA											False	0	False	2:136564940	0
RGS22	26166	broad.mit.edu	37	8	101076206	101076206	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:101076206A>T	ENST00000360863.6	-	8	984	c.790T>A	c.(790-792)Ttg>Atg	p.L264M	RGS22_ENST00000523437.1_Missense_Mutation_p.L252M|RGS22_ENST00000523287.1_Missense_Mutation_p.L83M	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	264					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCAGAAATCAATTTGTTGGTT	0.343		NA											False	0	True	8:101076206	0
WHSC1L1	54904	broad.mit.edu	37	8	38187221	38187221	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:38187221G>T	ENST00000317025.8	-	6	1773	c.1256C>A	c.(1255-1257)aCc>aAc	p.T419N	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.T419N|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.T419N|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.T419N	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAAC	0.433		NA	T	NUP98	AML								False	0	True	8:38187221	0
TEPP	374739	broad.mit.edu	37	16	58010414	58010414	+	Silent	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:58010414G>A	ENST00000290871.5	+	1	76	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TEPP_ENST00000441824.2_Silent_p.L13L	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	13						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						TTATTCTGCTGCTGTCCATAA	0.517		NA											False	0	True	16:58010414	0
TMX4	56255	broad.mit.edu	37	20	7963022	7963022	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:7963022C>T	ENST00000246024.2	-	8	1141	c.926G>A	c.(925-927)cGg>cAg	p.R309Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	309	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TACTTCCTCCCGGGTCACACC	0.582		NA											False	0	True	20:7963022	0
BOD1L1	259282	broad.mit.edu	37	4	13615144	13615144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:13615144G>A	ENST00000040738.5	-	5	1451	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	439	Lys-rich.						DNA binding				NA						ACCATCTGACGTAATCTCTCC	0.383		NA											False	0	False	4:13615144	0
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512		NA											False	0	False	20:51872260	0
MUC16	94025	broad.mit.edu	37	19	9071237	9071237	+	Silent	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:9071237C>T	ENST00000397910.4	-	3	16412	c.16209G>A	c.(16207-16209)ccG>ccA	p.P5403P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5405	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5403P(2)|p.P1036P(1)		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						TGTAAGTGGCCGGTCTCTCAT	0.502		NA											False	0	False	19:9071237	0
RIT1	6016	broad.mit.edu	37	1	155880296	155880296	+	Splice_Site	SNP	G	G	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:155880296G>T	ENST00000368323.3	-	3	312	c.108C>A	c.(106-108)gcC>gcA	p.A36A	RIT1_ENST00000368322.3_Splice_Site_p.A53A|RIT1_ENST00000539040.1_5'UTR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	36					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCATGGTCATGGCTTCAAAAG	0.393		NA											False	0	False	1:155880296	0
PKN3	29941	broad.mit.edu	37	9	131477728	131477728	+	Silent	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:131477728C>T	ENST00000291906.4	+	15	2190	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	PKN3_ENST00000485301.1_Intron	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	599	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	p.D599D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TCAGCCGGGACGAGATAGAGA	0.612		NA											False	0	False	9:131477728	0
MYOZ1	58529	broad.mit.edu	37	10	75391861	75391861	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:75391861G>T	ENST00000359322.4	-	6	1091	c.727C>A	c.(727-729)Ccc>Acc	p.P243T		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	243					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAAACTTGGGCATCTGGAAG	0.488		NA											False	0	True	10:75391861	0
DCT	1638	broad.mit.edu	37	13	95104903	95104903	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr13:95104903C>T	ENST00000446125.1	-	7	1619	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	DCT_ENST00000377028.5_Intron	NM_001129889.1	NP_001123361.1	P40126	TYRP2_HUMAN	dopachrome tautomerase	394					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		gtaaagcaaacgattagaaat	0.274		NA											False	0	True	13:95104903	0
PRKG1	5592	broad.mit.edu	37	10	53564378	53564378	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:53564378G>A	ENST00000373980.4	+	4	1043	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	PRKG1_ENST00000373985.1_Missense_Mutation_p.R182Q|PRKG1_ENST00000401604.2_Missense_Mutation_p.R194Q	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	194					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GCCATTGATCGACAATGTTTT	0.338		NA											False	0	False	10:53564378	0
NF1	4763	broad.mit.edu	37	17	29576089	29576089	+	Silent	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:29576089C>T	ENST00000358273.4	+	30	4445	c.4062C>T	c.(4060-4062)tcC>tcT	p.S1354S	NF1_ENST00000356175.3_Silent_p.S1354S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1354	Poly-Ser.|Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAGTTCCTCCTCAGAATTCC	0.398		NA	"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	False	17:29576089	0
KIAA1199	57214	broad.mit.edu	37	15	81201475	81201475	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:81201475C>T	ENST00000394685.3	+	14	2044	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.T542M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.T542M|RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	542										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						TTGGAGGGCACGGAGCTGAAG	0.552		NA											False	0	False	15:81201475	0
GRIN2D	2906	broad.mit.edu	37	19	48919318	48919318	+	Silent	SNP	C	C	T	rs148340456	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:48919318C>T	ENST00000263269.3	+	7	1729	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	547						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGGAGCGCTCCGAGATCGTGG	0.662		NA											False	0	False	19:48919318	0
PLA2G4E	123745	broad.mit.edu	37	15	42276761	42276761	+	Silent	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:42276761G>A	ENST00000399518.3	-	19	2745	c.2259C>T	c.(2257-2259)taC>taT	p.Y753Y	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.Y724Y	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	741	PLA2c.			C -> Y (in Ref. 1; BAC87034).	phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CTGGCAGCTCGTATTTGGGGA	0.522		NA											False	0	False	15:42276761	0
PAPPA2	60676	broad.mit.edu	37	1	176709307	176709307	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:176709307G>A	ENST00000367662.3	+	14	5290	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1376					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCAGAGGACGAGGGGCAGAA	0.483		NA											False	0	False	1:176709307	0
MYOZ1	58529	broad.mit.edu	37	10	75391860	75391860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:75391860G>T	ENST00000359322.4	-	6	1092	c.728C>A	c.(727-729)cCc>cAc	p.P243H		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	243					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GTCAAACTTGGGCATCTGGAA	0.493		NA											False	0	True	10:75391860	0
AMPD1	270	broad.mit.edu	37	1	115216697	115216697	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:115216697C>T	ENST00000369538.3	-	13	1941	c.1894G>A	c.(1894-1896)Gtg>Atg	p.V632M	AMPD1_ENST00000353928.6_Missense_Mutation_p.V603M|AMPD1_ENST00000520113.2_Missense_Mutation_p.V636M	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	603					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TACTGTAGCACGGGACTCTGA	0.353		NA											False	0	True	1:115216697	0
ZAN	7455	broad.mit.edu	37	7	100377265	100377265	+	RNA	SNP	A	A	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:100377265A>T	ENST00000542585.1	+	0	6660				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)	NA					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCTCTGTGAGTTCGGAGGT	0.652		NA											False	0	False	7:100377265	0
OR10Q1	219960	broad.mit.edu	37	11	57995470	57995470	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:57995470A>G	ENST00000316770.2	-	1	920	c.878T>C	c.(877-879)tTg>tCg	p.L293S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCTGTAAAGCAAAGGGTTGAG	0.547		NA											False	0	True	11:57995470	0
CDH20	28316	broad.mit.edu	37	18	59195270	59195270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:59195270G>A	ENST00000262717.4	+	7	1486	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	CDH20_ENST00000536675.2_Missense_Mutation_p.R363H|CDH20_ENST00000538374.1_Missense_Mutation_p.R363H			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	363	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)				CTAGAGATGCGTTTTCTGAAC	0.473		NA											False	0	True	18:59195270	0
GGT1	2678	broad.mit.edu	37	22	25023843	25023843	+	Silent	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:25023843G>A	ENST00000400382.1	+	13	1988	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	GGT1_ENST00000400380.1_Silent_p.P411P|GGT1_ENST00000400383.1_Silent_p.P411P|GGT1_ENST00000403838.1_Silent_p.P67P|GGT1_ENST00000248923.4_Silent_p.P411P|GGT1_ENST00000401885.1_Silent_p.P67P|GGT1_ENST00000406383.2_Silent_p.P411P|GGT1_ENST00000404920.1_Silent_p.P67P|GGT1_ENST00000404532.1_Silent_p.P67P|GGT1_ENST00000404223.1_Silent_p.P67P|GGT1_ENST00000466310.1_3'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	411					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCCGCTCCCCGGTCAGCGGGA	0.597		NA											False	0	True	22:25023843	0
NCAM2	4685	broad.mit.edu	37	21	22656721	22656721	+	Splice_Site	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr21:22656721G>A	ENST00000400546.1	+	3	586		c.e3+1		NCAM2_ENST00000535285.1_Splice_Site|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_Splice_Site	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	NA					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.?(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAAATTTACCGTAAGTAATGT	0.294		NA											False	0	True	21:22656721	0
BPTF	2186	broad.mit.edu	37	17	65850550	65850550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:65850550C>T	ENST00000321892.4	+	2	1169	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q370*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q370*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q231*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	370					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTAGTCGATCAGTTTCTTAC	0.418		NA											False	0	False	17:65850550	0
CCRN4L	25819	broad.mit.edu	37	4	139966043	139966043	+	Silent	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:139966043C>T	ENST00000280614.2	+	3	904	c.711C>T	c.(709-711)gcC>gcT	p.A237A	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	237					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ATGGTTGTGCCTTATTTTTTC	0.463		NA											False	0	False	4:139966043	0
H6PD	9563	broad.mit.edu	37	1	9324398	9324398	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:9324398C>A	ENST00000377403.2	+	5	2148	c.1846C>A	c.(1846-1848)Ctg>Atg	p.L616M	H6PD_ENST00000602477.1_Missense_Mutation_p.L627M	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	616	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCACACGCACCTGTGGCTGGT	0.682		NA											False	0	False	1:9324398	0
LINC00303	0	broad.mit.edu	37	1	204006436	204006436	+	RNA	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:204006436G>A	ENST00000367207.3	-	0	584										NA											NA						AAACAGTCTCGGGGCGGGGGT	0.512		NA											False	0	True	1:204006436	0
DRG2	1819	broad.mit.edu	37	17	18003681	18003681	+	Silent	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:18003681C>T	ENST00000225729.3	+	6	610	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	DRG2_ENST00000395726.4_Silent_p.L158L|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	158	G.				signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TCCTAGGTCTCTGCTGGAGAA	0.577		NA											False	0	False	17:18003681	0
CADM3	57863	broad.mit.edu	37	1	159163257	159163257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:159163257C>T	ENST00000368125.4	+	4	584	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	CADM3_ENST00000368124.4_Missense_Mutation_p.R177W	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	143	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ATCTTCATTACGGGAAAAAGA	0.532		NA											False	0	True	1:159163257	0
CXCR4	0	broad.mit.edu	37	2	136872710	136872710	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:136872710G>A	ENST00000409817.1	-	1	1103	c.800C>T	c.(799-801)tCc>tTc	p.S267F	CXCR4_ENST00000241393.3_Missense_Mutation_p.S263F|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	263	Involved in dimerization.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GAGGATGAAGGAGTCGATGCT	0.517		NA											False	0	False	2:136872710	0
SLC28A1	9154	broad.mit.edu	37	15	85461805	85461805	+	Silent	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:85461805C>T	ENST00000394573.1	+	10	1048	c.846C>T	c.(844-846)caC>caT	p.H282H	SLC28A1_ENST00000537703.1_Silent_p.H204H|SLC28A1_ENST00000286749.3_Silent_p.H282H|SLC28A1_ENST00000537216.1_Silent_p.H282H|SLC28A1_ENST00000537624.1_Silent_p.H282H|SLC28A1_ENST00000538177.1_Silent_p.H282H	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	282					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCTCTACCACGTGGGCCTCA	0.562		NA											False	0	False	15:85461805	0
ZNF716	441234	broad.mit.edu	37	7	57528604	57528604	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:57528604A>T	ENST00000420713.1	+	4	549	c.437A>T	c.(436-438)aAc>aTc	p.N146I		NM_001159279.1	NP_001152751.1			zinc finger protein 716	NA										breast(1)|kidney(1)|lung(20)|ovary(2)	24						AATTATGTTAACCAATGTTTG	0.343		NA											False	0	False	7:57528604	0
ADAMTS18	170692	broad.mit.edu	37	16	77353780	77353780	+	Missense_Mutation	SNP	G	G	A	rs147816593		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:77353780G>A	ENST00000282849.5	-	16	2916	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGCCCTGGCGCGTACAGACG	0.542		NA											False	0	False	16:77353780	0
SYNPO2	171024	broad.mit.edu	37	4	119948009	119948009	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:119948009C>T	ENST00000307142.4	+	3	681	c.485C>T	c.(484-486)cCg>cTg	p.P162L	SYNPO2_ENST00000429713.2_Missense_Mutation_p.P162L|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P162L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	162						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAACAGGCCCGAGCTACCAA	0.547		NA											False	0	True	4:119948009	0
RNF144A	9781	broad.mit.edu	37	2	7160800	7160800	+	Silent	SNP	C	C	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:7160800C>G	ENST00000320892.6	+	6	940	c.498C>G	c.(496-498)ccC>ccG	p.P166P	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	166						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CCTTCCTCCCCGGGGAGACCA	0.587		NA											False	0	True	2:7160800	0
IGSF9	57549	broad.mit.edu	37	1	159900160	159900160	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:159900160C>T	ENST00000368094.1	-	15	2080	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R612Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	628	Fibronectin type-III 2.					cell junction|integral to membrane|synapse		p.R612L(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCAGACCCCGCGGAGGGGA	0.652		NA											False	0	True	1:159900160	0
ST8SIA2	8128	broad.mit.edu	37	15	92981637	92981637	+	Silent	SNP	A	A	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:92981637A>G	ENST00000268164.3	+	4	582	c.345A>G	c.(343-345)ggA>ggG	p.G115G	ST8SIA2_ENST00000539113.1_Silent_p.G94G	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	115					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCCTAAAGGGAACCCTGAAGC	0.473		NA											False	0	True	15:92981637	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
FOXQ1	94234	broad.mit.edu	37	6	1313384	1313384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:1313384C>T	ENST00000296839.2	+	1	710	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	149					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CAACGAGTACCTCATGGGCAA	0.657		NA											False	0	False	6:1313384	0
ZNF761	388561	broad.mit.edu	37	19	53950474	53950474	+	RNA	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:53950474C>T	ENST00000454407.1	+	0	406							Q86XN6	ZN761_HUMAN	zinc finger protein 761	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACTCTTGGTACGTGAGGAAGA	0.433		NA											False	0	False	19:53950474	0
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:50405102G>A	ENST00000435965.1	-	27	2462	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000479441.1_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000423994.2_Silent_p.D763D|CACNA2D2_ENST00000360963.3_Silent_p.D687D|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607088.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642		NA											False	0	False	3:50405102	0
SPAM1	0	broad.mit.edu	37	7	123599604	123599604	+	Silent	SNP	C	C	T	rs146075363		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:123599604C>T	ENST00000340011.5	+	5	1468	c.1111C>T	c.(1111-1113)Cta>Tta	p.L371L	SPAM1_ENST00000460182.1_Silent_p.L371L|SPAM1_ENST00000402183.2_Silent_p.L371L|SPAM1_ENST00000439500.1_Silent_p.L371L|SPAM1_ENST00000223028.7_Silent_p.L371L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	371					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAACGTCACACTAGCAGCCAA	0.378		NA											False	0	False	7:123599604	0
CSNK1E	1454	broad.mit.edu	37	22	38690455	38690455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:38690455G>A	ENST00000396832.1	-	8	1231	c.971C>T	c.(970-972)gCg>gTg	p.A324V	CSNK1E_ENST00000400206.2_Missense_Mutation_p.A324V|CSNK1E_ENST00000359867.3_Missense_Mutation_p.A324V|CSNK1E_ENST00000403904.1_Missense_Mutation_p.A324V	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	324					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGCTCGGGTCGCGGACCCCCG	0.726		NA											False	0	False	22:38690455	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0
GPR182	11318	broad.mit.edu	37	12	57389416	57389416	+	Silent	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:57389416C>T	ENST00000300098.1	+	2	642	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	141						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ATAGCAGCATCTTCTTCCTGG	0.592		NA											False	0	False	12:57389416	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529196	150529196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:150529196G>A	ENST00000271643.4	+	10	1912	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R559H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R582H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R559H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	559					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGATATAACCGTCCTCCCAGG	0.647		NA											False	0	False	1:150529196	0
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413		NA											False	0	False	18:48591918	0
BBS9	27241	broad.mit.edu	37	7	33407475	33407475	+	Splice_Site	SNP	G	G	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:33407475G>A	ENST00000242067.6	+	17	2310		c.e17+1		BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000350941.3_Splice_Site|BBS9_ENST00000354265.4_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	NA					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAAACTTCTCGTAAGTAAAAC	0.373		NA							Bardet-Biedl syndrome				False	0	True	7:33407475	0
ASH2L	9070	broad.mit.edu	37	8	37964684	37964684	+	Splice_Site	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:37964684C>T	ENST00000343823.6	+	3	710	c.401C>T	c.(400-402)tCa>tTa	p.S134L	ASH2L_ENST00000545394.1_Intron|ASH2L_ENST00000521652.1_Splice_Site_p.S40L|ASH2L_ENST00000428278.2_Splice_Site_p.S40L|ASH2L_ENST00000250635.7_Splice_Site_p.S40L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	134					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATAGATACCTCGTGAGTACTT	0.408		NA											False	0	False	8:37964684	0
TRPS1	7227	broad.mit.edu	37	8	116616325	116616325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:116616325C>T	ENST00000395715.3	-	4	2448	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	TRPS1_ENST00000220888.5_Missense_Mutation_p.R611Q|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.R615Q|TRPS1_ENST00000519674.1_Missense_Mutation_p.R611Q	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	611					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTTTGACTCGCGAGCTTCC	0.478		NA							Langer-Giedion syndrome				False	0	False	8:116616325	0
