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
OR52D1	390066	broad.mit.edu	37	11	5510540	5510541	+	Frame_Shift_Ins	INS	-	-	GGCT	rs72233167	by1000genomes	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr11:5510540_5510541insGGCT	ENST00000322641.5	+	1	626_627	c.604_605insGGCT	c.(604-606)gggfs	p.-203fs	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	NA					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGTCTATGGGCTAACTGTG	0.49		NA											False	1	True	11:5510540	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596		NA											False	1	True	11:116729011	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	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
SYNE3	161176	broad.mit.edu	37	14	95903308	95903310	+	In_Frame_Del	DEL	AGA	AGA	-	rs76499929		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr14:95903308_95903310delAGA	ENST00000334258.5	-	14	2399_2401	c.2385_2387delTCT	c.(2383-2388)cttcta>cta	p.795_796LL>L	SYNE3_ENST00000554873.1_In_Frame_Del_p.552_553LL>L|SYNE3_ENST00000557275.1_Intron	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3	NA								p.L796delL(1)		breast(1)|endometrium(2)|lung(25)	28						TTCTTCCTGTAGAAGATTTGCCT	0.542		NA											False	2	False	14:95903308	0
TYRO3	7301	broad.mit.edu	37	15	41860561	41860562	+	Splice_Site	INS	-	-	A			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr15:41860561_41860562insA	ENST00000263798.3	+	8	1331		c.e8+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	NA						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGAACCCAGGTAAGACAGAAC	0.53		NA											False	0	False	15:41860561	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	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
PKD1L2	114780	broad.mit.edu	37	16	81161473	81161474	+	RNA	INS	-	-	TACTGCCAAGCCTGGGGAAAGC	rs71880246	by1000genomes	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr16:81161473_81161474insTACTGCCAAGCCTGGGGAAAGC	ENST00000534142.1	-	0	629_630				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	NA					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGGCTCTGGTACTGCCATTA	0.569		NA											False	0	False	16:81161473	0
TMEM91	641649	broad.mit.edu	37	19	41888851	41888861	+	Frame_Shift_Del	DEL	GGGGACTGGGC	GGGGACTGGGC	-			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000539627.1	+	3	706_716	c.385_395delGGGGACTGGGC	c.(385-396)ggggactgggcafs	p.GDWA129fs	TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000392002.2_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000356385.4_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron					transmembrane protein 91	NA										lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531		NA											False	1	False	19:41888851	0
KCNA7	3743	broad.mit.edu	37	19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-	rs79563011		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TGCCCAGAGTGGAGGTGGTAGCT	0.631		NA											False	1	False	19:49573363	0
YBEY	54059	broad.mit.edu	37	21	47706981	47706982	+	In_Frame_Ins	INS	-	-	ATGTTTGCAACG			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr21:47706981_47706982insATGTTTGCAACG	ENST00000329319.3	+	2	552_553	c.154_155insATGTTTGCAACG	c.(154-156)aga>aATGTTTGCAACGga	p.52_52R>NVCNG	YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397691.1_In_Frame_Ins_p.52_52R>NVCNG|YBEY_ENST00000397694.1_Intron|YBEY_ENST00000397701.4_In_Frame_Ins_p.52_52R>NVCNG|YBEY_ENST00000339195.6_In_Frame_Ins_p.52_52R>NVCNG	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	52							metal ion binding|metalloendopeptidase activity	p.R52R(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GCACATTAATAGAATCTACAGA	0.386		NA											False	0	False	21:47706981	0
PCNT	5116	broad.mit.edu	37	21	47819624	47819625	+	Frame_Shift_Ins	INS	-	-	AATACAAT			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr21:47819624_47819625insAATACAAT	ENST00000359568.5	+	25	4812_4813	c.4705_4706insAATACAAT	c.(4705-4707)gagfs	p.-1569fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	NA					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACGTCTGGAGGAGATGAACATC	0.411		NA											False	0	False	21:47819624	0
PCNT	5116	broad.mit.edu	37	21	47819626	47819627	+	Frame_Shift_Ins	INS	-	-	AATGTTTT			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr21:47819626_47819627insAATGTTTT	ENST00000359568.5	+	25	4814_4815	c.4707_4708insAATGTTTT	c.(4708-4710)atgfs	p.M1570fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1570					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTGGAGGAGATGAACATCAA	0.411		NA											False	0	False	21:47819626	0
SLC5A7	60482	broad.mit.edu	37	2	108627182	108627183	+	Frame_Shift_Ins	INS	-	-	TTCTG			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:108627182_108627183insTTCTG	ENST00000264047.2	+	9	1884_1885	c.1608_1609insTTCTG	c.(1609-1611)attfs	p.I537fs	SLC5A7_ENST00000409059.1_Frame_Shift_Ins_p.I537fs|SLC5A7_ENST00000540517.1_Frame_Shift_Ins_p.I432fs	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	537					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AAAATGAAAATATTAAATTAGA	0.386		NA											False	0	False	2:108627182	0
NEB	4703	broad.mit.edu	37	2	152346579	152346580	+	Frame_Shift_Ins	INS	-	-	ATATGTGCAAA			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:152346579_152346580insATATGTGCAAA	ENST00000604864.1	-	179	25308_25309	c.25309_25310insTTTGCACATAT	c.(25309-25311)gcafs	p.A8437fs	NEB_ENST00000397345.3_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000509223.2_Frame_Shift_Ins_p.A350fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.A6581fs|RIF1_ENST00000457745.1_Intron|NEB_ENST00000172853.10_Frame_Shift_Ins_p.A6581fs|NEB_ENST00000397336.2_Frame_Shift_Ins_p.A412fs			P20929	NEBU_HUMAN	nebulin	6581					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGGTTTTTGCATGTTTGTAA	0.411		NA											False	0	False	2:152346579	0
CSRNP3	80034	broad.mit.edu	37	2	166535613	166535615	+	In_Frame_Del	DEL	GAC	GAC	-	rs61747278	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:166535613_166535615delGAC	ENST00000409420.1	+	5	1454_1456	c.1204_1206delGAC	c.(1204-1206)gacdel	p.D402del	CSRNP3_ENST00000342316.4_In_Frame_Del_p.D370del|CSRNP3_ENST00000314499.7_In_Frame_Del_p.D370del			Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	370					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAGTGAGTCAGACgaggaggagg	0.537		NA											False	1	False	2:166535613	0
MLPH	79083	broad.mit.edu	37	2	238449105	238449107	+	In_Frame_Del	DEL	GAA	GAA	-	rs2271809	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:238449105_238449107delGAA	ENST00000410032.1	+	8	1183_1185	c.790_792delGAA	c.(790-792)gaadel	p.E264del	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_In_Frame_Del_p.E339del|MLPH_ENST00000338530.4_In_Frame_Del_p.E379del|MLPH_ENST00000264605.3_In_Frame_Del_p.E407del|MLPH_ENST00000445024.2_In_Frame_Del_p.E407del			Q9BV36	MELPH_HUMAN	melanophilin	259							metal ion binding	p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGAGGAGGAGGAAGCCAAGGACG	0.621		NA											False	1	True	2:238449105	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	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
EIF4A2	1974	broad.mit.edu	37	3	186505331	186505331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr3:186505331delC	ENST00000323963.5	+	9	1021	c.957delC	c.(955-957)ttcfs	p.F319fs	EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.F224fs|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.F320fs			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	319	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGAGGGAATTCCGGTCAGGGT	0.403		NA	T	BCL6	NHL								False	2	False	3:186505331	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
TNIP3	79931	broad.mit.edu	37	4	122078300	122078317	+	In_Frame_Del	DEL	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	-	rs10000692	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	-	-	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:122078300_122078317delTCTCTGCCTGTCGTCCTT	ENST00000057513.3	-	4	509_526	c.295_312delAAGGACGACAGGCAGAGA	c.(295-312)aaggacgacaggcagagadel	p.KDDRQR99del	TNIP3_ENST00000507879.1_In_Frame_Del_p.KDDRQR169del|TNIP3_ENST00000454328.1_In_Frame_Del_p.KDDRQR99del|TNIP3_ENST00000509841.1_In_Frame_Del_p.KDDRQR176del	NM_024873.5	NP_079149.3	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	99			K -> E (in dbSNP:rs10000692).					p.D101N(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TGTCGTCCTCTCTCTGCCTGTCGTCCTTTCTCTGCCTC	0.624		NA											False	1	False	4:122078300	0
KLHL2	11275	broad.mit.edu	37	4	166235300	166235301	+	Frame_Shift_Ins	INS	-	-	AGAGATTTATATCATAT			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:166235300_166235301insAGAGATTTATATCATAT	ENST00000226725.6	+	13	1850_1851	c.1591_1592insAGAGATTTATATCATAT	c.(1591-1593)atgfs	p.M531fs	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Frame_Shift_Ins_p.M443fs|KLHL2_ENST00000514860.1_Frame_Shift_Ins_p.M535fs|KLHL2_ENST00000506761.1_Frame_Shift_Ins_p.M365fs|KLHL2_ENST00000421009.2_Frame_Shift_Ins_p.M434fs	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	531					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGATATGAACATGTGCAGAAGA	0.356		NA											False	0	False	4:166235300	0
ENTPD2	954	broad.mit.edu	37	9	139944753	139944754	+	Frame_Shift_Ins	INS	-	-	CCGCCTGCCCT			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr9:139944753_139944754insCCGCCTGCCCT	ENST00000355097.2	-	6	1058_1059	c.1011_1012insAGGGCAGGCGG	c.(1009-1014)ccagtgfs	p.V338fs	ENTPD2_ENST00000312665.5_Frame_Shift_Ins_p.V338fs	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	338						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTCCCAGCCACTGGGGGCTGGA	0.614		NA									OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	9:139944753	0
HAAO	23498	broad.mit.edu	37	2	42996988	42996988	+	Silent	SNP	G	G	T			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:42996988G>T	ENST00000294973.6	-	7	550	c.495C>A	c.(493-495)ctC>ctA	p.L165L		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	165	Linker (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	p.L165L(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						GTGGCTCCTTGAGCAGCTGGT	0.637		NA											False	0	False	2:42996988	0
LRRC30	339291	broad.mit.edu	37	18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597		NA											False	0	True	18:7231272	0
CSPP1	79848	broad.mit.edu	37	8	68062082	68062082	+	Silent	SNP	T	T	C			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr8:68062082T>C	ENST00000262210.5	+	16	2056	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	710	Poly-Gly.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAAGAACATATGAAGATAAAA	0.358		NA											False	0	False	8:68062082	0
