Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SMYD1	150572	broad.mit.edu	37	2	88383887	88383887	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr2:88383887C>G	ENST00000419482.2	+	2	275	c.190C>G	c.(190-192)Cgc>Ggc	p.R64G	SMYD1_ENST00000444564.2_Missense_Mutation_p.R64G|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Missense_Mutation_p.R64G	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAAGCTCCATCGCTGTGGGCA	0.507000													27	55					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487766	108487766	+	Silent	SNP	A	A	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr2:108487766A>G	ENST00000408999.3	+	20	3383	c.3306A>G	c.(3304-3306)agA>agG	p.R1102R	RGPD4_ENST00000354986.4_Silent_p.R1102R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1102	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATGCGAAGAGAACAAGTAC	0.443000													23	240					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724302	112724302	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr7:112724302C>A	ENST00000501255.2	-	3	1098	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	GPR85_ENST00000449591.1_Missense_Mutation_p.D159Y|GPR85_ENST00000297146.2_Missense_Mutation_p.D159Y|GPR85_ENST00000424100.1_Missense_Mutation_p.D159Y	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	159						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GTGCCCACGTCTAAAACCGGG	0.493000													33	80					1.36615e-20	1.70099e-20	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18534714	18534714	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:18534714G>T	ENST00000433979.1	+	13	1888	c.1772G>T	c.(1771-1773)gGg>gTg	p.G591V	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G591V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G632V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	591					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCATTCTCGGGTCTATGCTG	0.443000													19	98					8.28177e-16	1.0017e-15	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15937193	15937193	+	Silent	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr5:15937193G>A	ENST00000504595.1	+	4	1855	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	FBXL7_ENST00000510662.1_Silent_p.T411T|FBXL7_ENST00000329673.7_Silent_p.T446T	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	458					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCTCCAGACGCTGAATGTCC	0.602000													8	29					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923439	9923439	+	Silent	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:9923439G>A	ENST00000396573.2	-	10	2157	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	GRIN2A_ENST00000562109.1_Silent_p.S616S|GRIN2A_ENST00000330684.3_Silent_p.S616S|GRIN2A_ENST00000404927.2_Silent_p.S616S|GRIN2A_ENST00000396575.2_Silent_p.S616S|GRIN2A_ENST00000535259.1_Silent_p.S459S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	616					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGACAGGCACGGAGTTATTGA	0.483000													23	47					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084475	58084475	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:58084475C>T	ENST00000196489.3	-	4	1019	c.797G>A	c.(796-798)gGa>gAa	p.G266E		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AGGCCTTTCTCCAGGGTGGAC	0.473000													4	155					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36766880	36766880	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr8:36766880G>T	ENST00000399881.3	+	21	2195	c.2158G>T	c.(2158-2160)Gta>Tta	p.V720L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	720	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTAGCATGTGTATTTGGAGA	0.453000													70	245					7.46257e-40	9.77058e-40	1	1	0
BIRC7	79444	broad.mit.edu	37	20	61869945	61869945	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr20:61869945G>A	ENST00000217169.3	+	4	770	c.556G>A	c.(556-558)Gca>Aca	p.A186T	BIRC7_ENST00000395306.1_Missense_Mutation_p.A99T|BIRC7_ENST00000342412.6_Missense_Mutation_p.A186T	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	186					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					ACCGGAAGACGCAGCCCCTGT	0.677000													44	110					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862787	10862787	+	RNA	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr21:10862787C>T	ENST00000559480.1	+	0	83																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CAGTCTGGGGCTGAGGTGAAG	0.567000													44	361					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56093710	56093710	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:56093710T>C	ENST00000257880.7	-	6	1085	c.866A>G	c.(865-867)gAc>gGc	p.D289G	ITGA7_ENST00000394229.2_Missense_Mutation_p.D245G|ITGA7_ENST00000347027.6_Missense_Mutation_p.D245G|ITGA7_ENST00000257879.6_Missense_Mutation_p.D245G|ITGA7_ENST00000394230.2_Intron|ITGA7_ENST00000553804.1_Intron|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000555728.1_Missense_Mutation_p.D289G			Q13683	ITA7_HUMAN	integrin, alpha 7	289					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTCAGCAGGGTCCAAAGTTTT	0.577000													30	29					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780926	88780926	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:88780926C>A	ENST00000418177.2	-	2	482	c.115G>T	c.(115-117)Gct>Tct	p.A39S	GRM5_ENST00000305447.4_Missense_Mutation_p.A39S|GRM5_ENST00000393294.3_Missense_Mutation_p.A39S|GRM5_ENST00000305432.5_Missense_Mutation_p.A39S|GRM5_ENST00000393297.1_Missense_Mutation_p.A39S|GRM5_ENST00000455756.2_Missense_Mutation_p.A39S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	39					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAAAAGAGAGCTCCAATAATG	0.512000													15	16					2.23348e-06	2.40383e-06	1	1	0
NIN	51199	broad.mit.edu	37	14	51224114	51224114	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr14:51224114C>T	ENST00000245441.5	-	18	3824	c.3634G>A	c.(3634-3636)Gcg>Acg	p.A1212T	NIN_ENST00000453196.1_Missense_Mutation_p.A1212T|NIN_ENST00000530997.2_Missense_Mutation_p.A1212T|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.A1212T|NIN_ENST00000324330.9_Missense_Mutation_p.A1212T	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1212					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCACAGTCCGCACATAACATC	0.428000			T	PDGFRB	MPD								4	118					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19754234	19754234	+	Silent	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr22:19754234C>T	ENST00000332710.4	+	9	1461	c.1332C>T	c.(1330-1332)caC>caT	p.H444H	TBX1_ENST00000329705.7_Intron|TBX1_ENST00000359500.3_Intron	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	67					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TGCGTGGCCACGGCTACCACC	0.751000													5	42					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39762563	39762563	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr14:39762563A>G	ENST00000553728.1	+	10	2291	c.2078A>G	c.(2077-2079)aAa>aGa	p.K693R	CTAGE5_ENST00000280083.3_Missense_Mutation_p.K158R|CTAGE5_ENST00000341502.5_Missense_Mutation_p.K158R|CTAGE5_ENST00000396158.2_Missense_Mutation_p.K163R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.K129R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.K129R|CTAGE5_ENST00000348007.3_Missense_Mutation_p.K158R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.K146R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.K83R|CTAGE5_ENST00000553352.1_Missense_Mutation_p.K129R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.K78R																							GAGAAATCCAAACATTCTGAA	0.313000													10	22					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92430552	92430552	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:92430552C>G	ENST00000298047.6	+	3	3627	c.3610C>G	c.(3610-3612)Ctg>Gtg	p.L1204V	FAT3_ENST00000525166.1_Missense_Mutation_p.L1054V|FAT3_ENST00000409404.2_Missense_Mutation_p.L1204V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1204	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTACACAGGTCTGATTACAAC	0.388000										TCGA Ovarian(4;0.039)			13	34					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87643528	87643528	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr4:87643528A>G	ENST00000436978.1	+	10	2029	c.1549A>G	c.(1549-1551)Acc>Gcc	p.T517A	PTPN13_ENST00000511467.1_Missense_Mutation_p.T517A|PTPN13_ENST00000316707.6_Missense_Mutation_p.T517A|PTPN13_ENST00000427191.2_Missense_Mutation_p.T517A|PTPN13_ENST00000411767.2_Missense_Mutation_p.T517A	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	517						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCTTGACATCACCAGGGATCC	0.453000													11	140					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10428203	10428203	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:10428203T>A	ENST00000293677.6	-	13	2279	c.2198A>T	c.(2197-2199)tAt>tTt	p.Y733F	CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.Y134F	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CTGGCCCACATAGCTGCCTTC	0.657000													23	27					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	13					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158990263	158990263	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:158990263C>T	ENST00000295809.7	+	6	1360	c.1105C>T	c.(1105-1107)Ctt>Ttt	p.L369F	IFI16_ENST00000448393.2_Missense_Mutation_p.L369F|IFI16_ENST00000359709.3_Missense_Mutation_p.L313F|IFI16_ENST00000368132.3_Missense_Mutation_p.L369F|IFI16_ENST00000368131.4_Missense_Mutation_p.L369F|IFI16_ENST00000430894.2_Missense_Mutation_p.L317F|IFI16_ENST00000340979.6_Missense_Mutation_p.L369F			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	369	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CTGCTTTCGACTTAGAAAAAA	0.358000													15	68					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650267	133650267	+	Silent	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr8:133650267G>A	ENST00000519595.1	-	4	441	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.L115L|LRRC6_ENST00000250173.1_Silent_p.L115L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	115						cytoplasm		p.L115L(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGCTCCTTCAGATGGATATTG	0.423000													21	57					0	0	1	0	0
SFTA3	253970	broad.mit.edu	37	14	36960420	36960420	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr14:36960420T>C	ENST00000518529.2	-	2	794	c.119A>G	c.(118-120)gAa>gGa	p.E40G	SFTA3_ENST00000518987.1_5'UTR|RP11-896J10.3_ENST00000521945.1_RNA	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	40										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						AGTGGTAGATTCTGATACTGG	0.418000													4	4					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527759	23527759	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr5:23527759C>A	ENST00000296682.3	+	11	2744	c.2562C>A	c.(2560-2562)caC>caA	p.H854Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	854					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGGACACACACAGGGGAGA	0.592000										HNSCC(3;0.000094)			87	96					2.16136e-38	2.80094e-38	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89347439	89347439	+	Silent	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:89347439C>A	ENST00000301030.4	-	9	5971	c.5511G>T	c.(5509-5511)ccG>ccT	p.P1837P	ANKRD11_ENST00000378330.2_Silent_p.P1837P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1837	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGCGGGAACCGGGGGCAGGG	0.647000													35	84					1.36615e-20	1.70099e-20	1	1	0
FAM65A	79567	broad.mit.edu	37	16	67574550	67574550	+	Silent	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:67574550G>A	ENST00000540839.3	+	11	1024	c.804G>A	c.(802-804)gtG>gtA	p.V268V	FAM65A_ENST00000042381.4_Silent_p.V248V|FAM65A_ENST00000428437.2_Silent_p.V262V|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000379312.3_Silent_p.V252V|FAM65A_ENST00000422602.2_Silent_p.V268V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	252						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GAAAGCAGGTGTGGGACAGTG	0.542000													124	129					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960534	7960534	+	Silent	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:7960534G>A	ENST00000360759.3	-	1	607	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGTCTCACAGAAGAGATGAT	0.423000													15	66					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													4	105					0	0	1	0	0
IGHV3-66	28412	broad.mit.edu	37	14	107131117	107131117	+	RNA	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr14:107131117G>A	ENST00000390632.2	-	0	342																											TGTCTCTGGAGATGGTGAATC	0.537000													52	232					0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72459539	72459539	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr9:72459539C>T	ENST00000377197.3	+	2	346	c.259C>T	c.(259-261)Cca>Tca	p.P87S	C9orf135_ENST00000466872.2_Intron|C9orf135_ENST00000527647.1_Missense_Mutation_p.P87S	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	87						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CGATGAATCCCCAGTAAGTAG	0.403000													33	25					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420620	11420620	+	RNA	SNP	G	G	T	rs71057717		TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:11420620G>T	ENST00000381842.3	-	0	600				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.P188Q(1)|p.P167Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TCCTCCTTGTGGGGGTGGTCC	0.647000													300	203					7.44341e-123	9.95066e-123	1	1	0
GLYATL1	92292	broad.mit.edu	37	11	58723459	58723459	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:58723459C>T	ENST00000300079.5	+	7	1011	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	GLYATL1_ENST00000317391.4_Missense_Mutation_p.H290Y|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	290						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CTGTGAGTGGCACCAATGGAC	0.423000													19	42					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134329159	134329159	+	Silent	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr3:134329159C>T	ENST00000508956.1	-	8	771	c.714G>A	c.(712-714)caG>caA	p.Q238Q	KY_ENST00000423778.2_Silent_p.Q259Q|KY_ENST00000503669.1_Silent_p.Q259Q			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	259						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCGAGAAGCTCTGCCCTGTCT	0.637000													39	40					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20864321	20864321	+	Splice_Site	SNP	T	T	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:20864321T>A	ENST00000381552.1	+	5	774	c.404_splice	c.e5-1	p.Y136_splice	SLCO1C1_ENST00000545102.1_Splice_Site_p.Y18_splice|SLCO1C1_ENST00000540354.1_Splice_Site_p.Y136_splice|SLCO1C1_ENST00000266509.2_Splice_Site_p.Y136_splice|SLCO1C1_ENST00000545604.1_Splice_Site_p.Y136_splice			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	136					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTTATGCAGGTACAAATATGA	0.388000													11	76					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652000			T	BCL6	NHL								8	166					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175563	57175563	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:57175563G>T	ENST00000537055.2	-	2	1235	c.1004C>A	c.(1003-1005)gCg>gAg	p.A335E		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTGGCCGCACGCGTAGGGCTT	0.701000													21	22					0.000295444	0.000307552	1	1	0
DUS3L	56931	broad.mit.edu	37	19	5789642	5789642	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:5789642C>A	ENST00000309061.7	-	3	572	c.476G>T	c.(475-477)gGc>gTc	p.G159V	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	159					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GCAGCGGGGGCCCAGGTCGGC	0.677000													5	7					1.23904e-05	1.30048e-05	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26702022	26702022	+	Missense_Mutation	SNP	A	A	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr22:26702022A>G	ENST00000529632.2	+	6	1622	c.1426A>G	c.(1426-1428)Agc>Ggc	p.S476G	SEZ6L_ENST00000404234.3_Missense_Mutation_p.S476G|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S476G|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S249G|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S476G|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S476G|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S249G	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	476	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACAAATGGGAGCCAATTCTG	0.557000													37	48					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612935	16612935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr17:16612935C>T	ENST00000443444.2	+	5	1704	c.1564C>T	c.(1564-1566)Caa>Taa	p.Q522*	RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.Q522*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.Q521*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.Q522*|CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.Q522*|CCDC144A_ENST00000456009.1_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	522																	AGAAGATGTTCAACTTCATAA	0.343000													23	72					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136026550	136026550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr2:136026550C>T	ENST00000401392.1	-	11	1580	c.1368G>A	c.(1366-1368)tgG>tgA	p.W456*	ZRANB3_ENST00000264159.6_Nonsense_Mutation_p.W456*|ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.W456*			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	456	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TCAACATTCCCCACATAAGGG	0.393000													35	151					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127540987	127540987	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr10:127540987G>A	ENST00000284690.3	-	6	1716	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	DHX32_ENST00000368721.1_Missense_Mutation_p.A33V|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.A328V	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	409						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCTTTGGAGGCAAATTCTTC	0.423000													4	124					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085806	56085806	+	Silent	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:56085806G>T	ENST00000312711.1	+	1	24	c.24G>T	c.(22-24)acG>acT	p.T8T		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T8T(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATCTAACAACGGTGAATGAAT	0.413000													19	61					1.67942e-08	1.87093e-08	1	1	0
ZFP30	22835	broad.mit.edu	37	19	38135586	38135586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:38135586C>A	ENST00000351218.2	-	4	618	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	ZFP30_ENST00000392144.1_Nonsense_Mutation_p.E21*|ZFP30_ENST00000514101.2_Nonsense_Mutation_p.E21*|ZFP30_ENST00000589018.1_Nonsense_Mutation_p.E21*	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCAGGCATTCCCATTCTTCC	0.363000													34	44					3.11337e-16	3.80191e-16	1	1	0
ATP9B	374868	broad.mit.edu	37	18	76829417	76829417	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr18:76829417G>T	ENST00000426216.2	+	1	24	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	ATP9B_ENST00000307671.7_Missense_Mutation_p.D3Y|ATP9B_ENST00000586722.1_Missense_Mutation_p.D3Y	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	3					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GAACATGGCGGACCAGATCCC	0.716000													6	13					0.0215528	0.0218976	1	1	0
ATM	472	broad.mit.edu	37	11	108235833	108235833	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:108235833G>A	ENST00000278616.4	+	62	9260	c.8875G>A	c.(8875-8877)Gac>Aac	p.D2959N	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.D2959N|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2959	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCCACTCTTTGACTGGACCAT	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			9	28					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20396021	20396021	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:20396021G>T	ENST00000302451.4	-	3	603	c.355C>A	c.(355-357)Ccg>Acg	p.P119T		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	119					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTCAACTCCGGGGCCTTGGTA	0.493000													98	207					7.79919e-48	1.03177e-47	1	1	0
S100A1	6271	broad.mit.edu	37	1	153603049	153603049	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:153603049G>A	ENST00000368698.3	+	3	358	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	S100A1_ENST00000292169.1_Missense_Mutation_p.A18T|S100A1_ENST00000368696.3_Missense_Mutation_p.A18T|S100A1_ENST00000469893.1_3'UTR|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000368699.1_Intron			P23297	S10A1_HUMAN	S100 calcium binding protein A1	18	EF-hand 2.				intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	CGTGTTCCACGCCCACTCGGG	0.577000													6	64					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396404	22396404	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:22396404C>G	ENST00000263160.3	+	9	1582	c.1145C>G	c.(1144-1146)aCg>aGg	p.T382R		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTTCAACTACGACAGTGAGA	0.373000													45	122					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360470	149360470	+	Silent	SNP	A	A	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr5:149360470A>T	ENST00000286298.4	+	3	1582	c.1314A>T	c.(1312-1314)gcA>gcT	p.A438A		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	438						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTACTAGTGCAGCTCTTGCAA	0.423000													15	42					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1													p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													4	64					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132406	58132406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:58132406G>T	ENST00000396161.5	+	3	1229	c.919G>T	c.(919-921)Gag>Tag	p.E307*		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGTTCAGCATGAGAGTATTCA	0.408000													42	150					1.96642e-18	2.42461e-18	1	1	0
MROH9	80133	broad.mit.edu	37	1	170967371	170967371	+	Nonsense_Mutation	SNP	A	A	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:170967371A>T	ENST00000367759.4	+	15	1706	c.1552A>T	c.(1552-1554)Aga>Tga	p.R518*	MROH9_ENST00000367758.3_Nonsense_Mutation_p.R518*	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		AGAAGGTCCTAGAAGGTCAGA	0.393000													28	72					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20944532	20944532	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:20944532G>T	ENST00000261383.3	-	62	12294	c.12295C>A	c.(12295-12297)Ccc>Acc	p.P4099T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4099					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCTTCTGGGGCATGTCTGTT	0.488000													80	131					1.7488e-33	2.24341e-33	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86591207	86591207	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:86591207G>T	ENST00000370571.2	-	3	1178	c.812C>A	c.(811-813)cCc>cAc	p.P271H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P271H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	271					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAATAGTTTGGGCGGGGGAGA	0.398000													39	33					1.67305e-13	1.98577e-13	1	1	0
RFX6	222546	broad.mit.edu	37	6	117244340	117244340	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr6:117244340G>T	ENST00000332958.2	+	14	1524	c.1508G>T	c.(1507-1509)gGt>gTt	p.G503V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	503					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTTTTTTTGGTGCTCGAGTA	0.328000													26	27					4.87955e-14	5.84626e-14	1	1	0
KIAA1328	57536	broad.mit.edu	37	18	34752961	34752961	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr18:34752961T>G	ENST00000591619.1	+	9	2214	c.1428T>G	c.(1426-1428)gaT>gaG	p.D476E	KIAA1328_ENST00000586135.1_Missense_Mutation_p.D232E|KIAA1328_ENST00000435985.2_Missense_Mutation_p.D232E|KIAA1328_ENST00000280020.5_Missense_Mutation_p.D480E|KIAA1328_ENST00000543923.1_Missense_Mutation_p.D372E			Q86T90	K1328_HUMAN	KIAA1328	480										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTAGAAAAGATGCGTCTACAT	0.388000													39	70					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682107	67682107	+	Silent	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:67682107C>T	ENST00000334583.6	+	14	1552	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	408										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCTCGGTCCCCCCGCGGGTG	0.701000													18	25					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132177693	132177693	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:132177693C>T	ENST00000374786.1	+	4	1116	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	NTM_ENST00000539799.1_Missense_Mutation_p.R213W|NTM_ENST00000425719.2_Missense_Mutation_p.R213W|NTM_ENST00000374791.3_Missense_Mutation_p.R213W|NTM_ENST00000374784.1_Missense_Mutation_p.R213W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.R204W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	213	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.R213W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCCCGTGGTACGGAGAGTAAA	0.582000													12	24					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230223348	230223348	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr2:230223348G>T	ENST00000341772.4	-	13	2256	c.2122C>A	c.(2122-2124)Cct>Act	p.P708T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	708					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TACATTGCAGGCCGGGATTTC	0.358000													18	45					5.3912e-06	5.75364e-06	1	1	0
LCE2D	353141	broad.mit.edu	37	1	152636890	152636890	+	Silent	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:152636890C>T	ENST00000368784.1	+	2	364	c.309C>T	c.(307-309)tgC>tgT	p.C103C		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	103	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTGCTGCCACAGCTCTG	0.612000													52	102					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975435	32975435	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:32975435C>G	ENST00000340811.4	-	8	1913	c.1805G>C	c.(1804-1806)gGa>gCa	p.G602A	PKP2_ENST00000070846.6_Missense_Mutation_p.G646A	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	646					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCAAAACATCCAATACTTTT	0.403000													12	78					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67286582	67286582	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:67286582C>T	ENST00000299798.11	+	2	390	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	109					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CACCTTCTTCCTCTTCCTGCT	0.542000													32	91					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55698925	55698925	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:55698925G>T	ENST00000376350.3	-	14	2544	c.2522C>A	c.(2521-2523)gCt>gAt	p.A841D	PTPRH_ENST00000263434.5_Missense_Mutation_p.A663D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	841	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTTCTCTGAAGCCGAAGCCAC	0.577000													25	83					1.42536e-11	1.64564e-11	1	1	0
GOT1L1	137362	broad.mit.edu	37	8	37794537	37794537	+	Silent	SNP	A	A	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr8:37794537A>T	ENST00000307599.4	-	5	657	c.558T>A	c.(556-558)atT>atA	p.I186I		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	186					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TGCAGTCGATAATGTTCCCCA	0.547000													27	54					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7024459	7024459	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr18:7024459G>T	ENST00000389658.3	-	18	2502	c.2409C>A	c.(2407-2409)agC>agA	p.S803R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	803	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAGGTGGGGCTGAAACTGT	0.453000													8	15					3.09899e-07	3.39285e-07	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47424463	47424463	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:47424463T>C	ENST00000404338.3	+	1	2531	c.2531T>C	c.(2530-2532)tTt>tCt	p.F844S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	844					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CATTCCTCCTTTAGCATCAGA	0.428000													30	92					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11959861	11959861	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:11959861T>A	ENST00000339865.5	+	17	2694	c.1931T>A	c.(1930-1932)aTa>aAa	p.I644K	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.I732K|USP47_ENST00000527733.1_Missense_Mutation_p.I712K	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	732					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GCTGCTCCTATAACTGTTCGT	0.343000													12	30					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558508	129558508	+	Missense_Mutation	SNP	T	T	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:129558508T>A	ENST00000422113.2	-	9	3538	c.3212A>T	c.(3211-3213)gAt>gTt	p.D1071V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D609V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1071						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTAATGTCATCCTCGCTACT	0.502000													115	65					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692178	13692178	+	Missense_Mutation	SNP	T	T	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr5:13692178T>C	ENST00000265104.4	-	79	13894	c.13790A>G	c.(13789-13791)tAc>tGc	p.Y4597C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4597					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCGGCAATGTAGTTCAAGTC	0.483000									Kartagener syndrome				50	48					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													4	108					0.184627	0.184627	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125547691	125547691	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr2:125547691C>T	ENST00000431078.1	+	18	3326	c.2962C>T	c.(2962-2964)Cct>Tct	p.P988S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	988	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACCAATTCACCTTATGAAGG	0.537000													7	18					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633480	70633480	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr14:70633480G>A	ENST00000381269.2	-	2	2413	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R554W|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R554W|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R554W|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R554W	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	554	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.R554W(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTGATGTCCGCAGAACCTTG	0.488000													3	55					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602289	10602289	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:10602289C>A	ENST00000171111.5	-	3	1836	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V	KEAP1_ENST00000393623.2_Missense_Mutation_p.G430V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	430			G -> C (in a lung adenocarcinoma patient; somatic mutation; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCGTGGGAGCCGCCGACGGC	0.657000													18	14					4.96729e-08	5.48562e-08	1	1	0
SLC17A2	10246	broad.mit.edu	37	6	25921590	25921590	+	Silent	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr6:25921590G>T	ENST00000377850.3	-	4	815	c.291C>A	c.(289-291)tcC>tcA	p.S97S	SLC17A2_ENST00000360488.3_Silent_p.S97S|SLC17A2_ENST00000265425.3_Silent_p.S97S			O00624	NPT3_HUMAN	solute carrier family 17, member 2	97					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CATAGTTGATGGAGCTAAAGA	0.413000													26	31					1.42536e-11	1.64564e-11	1	1	0
YIPF7	285525	broad.mit.edu	37	4	44626719	44626719	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr4:44626719C>T	ENST00000332990.5	-	5	595	c.579G>A	c.(577-579)atG>atA	p.M193I		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	193						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CTGAAGAGCTCATCAGGTTCA	0.522000													8	18					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135107382	135107382	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr2:135107382G>T	ENST00000409645.1	+	10	1371	c.1119G>T	c.(1117-1119)atG>atT	p.M373I	MGAT5_ENST00000281923.2_Missense_Mutation_p.M373I			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	373					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.M373I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCAGGTGCATGCTCCGAGTCC	0.408000													15	53					9.16793e-09	1.03038e-08	1	1	0
GLOD4	51031	broad.mit.edu	37	17	674623	674623	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr17:674623T>G	ENST00000301329.6	-	5	570	c.485A>C	c.(484-486)aAa>aCa	p.K162T	GLOD4_ENST00000536578.1_Missense_Mutation_p.K153T|GLOD4_ENST00000301328.5_Missense_Mutation_p.K177T	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	177						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTCATAAATTTTCATTCCCAG	0.373000													68	102					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135202730	135202730	+	Missense_Mutation	SNP	A	A	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr9:135202730A>C	ENST00000372169.2	-	10	4437	c.4255T>G	c.(4255-4257)Tct>Gct	p.S1419A	SETX_ENST00000393220.1_Missense_Mutation_p.S1419A|SETX_ENST00000224140.5_Missense_Mutation_p.S1419A			Q7Z333	SETX_HUMAN	senataxin	1419					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGGTTCAGAAGGCATGCAT	0.393000													55	66					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33408524	33408524	+	Silent	SNP	G	G	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr6:33408524G>C	ENST00000418600.2	+	11	1796	c.1695G>C	c.(1693-1695)ctG>ctC	p.L565L	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.L506L|SYNGAP1_ENST00000293748.5_Silent_p.L565L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	565	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGAGGGAGCTGAAGGAGGTGT	0.632000													13	11					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36303780	36303780	+	Silent	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr19:36303780C>A	ENST00000301175.3	-	2	173	c.156G>T	c.(154-156)ctG>ctT	p.L52L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	52					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCCTTGCCCAGACCAGGGG	0.547000													10	24					0.000442599	0.000456993	1	1	0
RBP3	5949	broad.mit.edu	37	10	48388939	48388939	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr10:48388939G>T	ENST00000224600.4	-	1	2052	c.1939C>A	c.(1939-1941)Ctg>Atg	p.L647M		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	647	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGGCCTCCAGCAGGTGCCCT	0.677000													20	36					5.03518e-11	5.76098e-11	1	1	0
GPR112	139378	broad.mit.edu	37	X	135432477	135432477	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chrX:135432477T>G	ENST00000394143.1	+	6	6903	c.6612T>G	c.(6610-6612)ttT>ttG	p.F2204L	GPR112_ENST00000370652.1_Missense_Mutation_p.F2204L|GPR112_ENST00000412101.1_Missense_Mutation_p.F1999L|GPR112_ENST00000287534.4_Missense_Mutation_p.F2141L|GPR112_ENST00000394141.1_Missense_Mutation_p.F1999L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2204					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATATCCTTTTACAGCAACTG	0.453000													64	25					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790187	248790187	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:248790187G>T	ENST00000330803.2	-	1	304	c.243C>A	c.(241-243)gaC>gaA	p.D81E		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAAACCATGTCTGCCAGGA	0.502000													42	62					2.54651e-27	3.23406e-27	1	1	0
CCNL2	81669	broad.mit.edu	37	1	1322674	1322674	+	Silent	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:1322674C>T	ENST00000400809.3	-	11	1505	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.S278S	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	500					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGCGTTCATACGACCTCGAGC	0.602000													5	98					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996173	2996173	+	Missense_Mutation	SNP	C	C	G	rs140099014	byFrequency	TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr17:2996173C>G	ENST00000331459.1	-	1	117	c.118G>C	c.(118-120)Gtg>Ctg	p.V40L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	40					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACATTTCCCACCACCGTGACC	0.547000													43	102					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121340812	121340812	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:121340812G>T	ENST00000260197.7	+	2	511	c.382G>T	c.(382-384)Gcg>Tcg	p.A128S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	128					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTGGCATTGGCGAGGCCCAA	0.527000													25	57					4.26978e-12	5.02094e-12	1	1	0
LYPD6B	130576	broad.mit.edu	37	2	150061822	150061822	+	Missense_Mutation	SNP	G	G	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr2:150061822G>C	ENST00000409642.3	+	4	534	c.133G>C	c.(133-135)Gct>Cct	p.A45P	LYPD6B_ENST00000409876.1_Missense_Mutation_p.A21P|LYPD6B_ENST00000280115.7_Missense_Mutation_p.A45P|LYPD6B_ENST00000409029.1_Missense_Mutation_p.A21P|LYPD6B_ENST00000498249.1_3'UTR	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	21						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CCTCTGTCACGCTCTCGCTAT	0.453000													24	152					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62561739	62561739	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:62561739C>A	ENST00000532297.1	-	20	2380	c.1751G>T	c.(1750-1752)tGg>tTg	p.W584L	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.W584L			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	584	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCTGGGACCACTCGAGGTT	0.527000													12	26					9.31168e-06	9.85486e-06	1	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21550564	21550564	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr14:21550564G>A	ENST00000298694.4	+	15	3540	c.3413G>A	c.(3412-3414)cGg>cAg	p.R1138Q	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R1138Q			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1138	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGCTTCCACCGGACACACTTT	0.647000													14	74					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811282	23811282	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr15:23811282C>T	ENST00000314520.3	+	1	829	c.353C>T	c.(352-354)tCg>tTg	p.S118L	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	118						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCGCTATTCGCACGACCTT	0.597000													39	86					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151094618	151094618	+	Missense_Mutation	SNP	T	T	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr3:151094618T>G	ENST00000474524.1	+	27	4017	c.3979T>G	c.(3979-3981)Tgg>Ggg	p.W1327G	MED12L_ENST00000273432.4_Missense_Mutation_p.W1187G|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1327					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGGCAATCCTGGTTAGAACT	0.338000													29	19					0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871245	20871245	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:20871245G>A	ENST00000324344.3	-	3	1163	c.878C>T	c.(877-879)tCa>tTa	p.S293L	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.S293L	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	293					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CTCAGGCCCTGAGCTGAGTGC	0.567000													19	35					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65862768	65862768	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr17:65862768G>A	ENST00000321892.4	+	3	1686	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	BPTF_ENST00000306378.6_Missense_Mutation_p.R542Q|BPTF_ENST00000335221.5_Missense_Mutation_p.R542Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R403Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	542					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)			AATAAGGCTCGGGGCAGTAAC	0.418000													4	120					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211013	59211013	+	Silent	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:59211013C>T	ENST00000302030.2	+	1	397	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGGCATACGACCGATATGCAG	0.532000													77	190					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111462514	111462514	+	Splice_Site	SNP	T	T	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr7:111462514T>G	ENST00000428084.1	-	27	3108		c.e27-2		DOCK4_ENST00000437633.1_Splice_Site			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAGGAAATCCTTGGATAAGGA	0.388000													11	10					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21462971	21462971	+	Missense_Mutation	SNP	G	G	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr14:21462971G>T	ENST00000339374.6	+	9	1020	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	METTL17_ENST00000556670.2_Missense_Mutation_p.V263L|METTL17_ENST00000382985.4_Missense_Mutation_p.V263L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	263					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGATGTAGTAGTGTCAGCTTT	0.443000													7	19					0.00198382	0.00203181	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	60					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	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	0.348000	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)			9	9					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													3	14					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761554	13761554	+	Missense_Mutation	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr12:13761554C>A	ENST00000279593.3	-	9	2202	c.1993G>T	c.(1993-1995)Ggc>Tgc	p.G665C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	665					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCGCTCAGGCCAGAAACCTGG	0.483000													8	34					0.0381472	0.03845	1	1	0
ACBD4	79777	broad.mit.edu	37	17	43220823	43220823	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr17:43220823G>A	ENST00000431281.1	+	12	1310	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	ACBD4_ENST00000586346.1_Missense_Mutation_p.G281S|ACBD4_ENST00000398322.3_Missense_Mutation_p.R268K|ACBD4_ENST00000321854.8_Missense_Mutation_p.R268K|ACBD4_ENST00000591859.1_Missense_Mutation_p.G281S|ACBD4_ENST00000592162.1_Silent_p.Q221Q	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	0							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCGCAGCCCAGGCCCAGTGCT	0.647000													18	31					0	0	1	0	0
PAGE3	139793	broad.mit.edu	37	X	55287043	55287043	+	Silent	SNP	C	C	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chrX:55287043C>A	ENST00000374951.1	-	4	551	c.243G>T	c.(241-243)ggG>ggT	p.G81G	PAGE3_ENST00000519203.1_Silent_p.G81G					P antigen family, member 3 (prostate associated)											endometrium(1)|kidney(1)|lung(1)	3						CACGTTCACCCCCAGTCTTTG	0.378000													14	9					7.93312e-07	8.61117e-07	1	1	0
CDH10	1008	broad.mit.edu	37	5	24498520	24498520	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr5:24498520G>A	ENST00000264463.4	-	9	2009	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	501	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCTGGTCTGGCATTTTCACA	0.383000										HNSCC(23;0.051)			31	31					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407692	1407692	+	Missense_Mutation	SNP	C	C	G			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chrX:1407692C>G	ENST00000381524.3	+	6	570	c.384C>G	c.(382-384)atC>atG	p.I128M	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.I128M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.I128M|CSF2RA_ENST00000381500.1_Missense_Mutation_p.I128M|CSF2RA_ENST00000361536.3_Missense_Mutation_p.I128M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.I128M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.I128M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.I128M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.I128M			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	128						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCTGTTTCATCTACAATGCGG	0.458000													108	76					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345360	33345360	+	Silent	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr20:33345360G>A	ENST00000374796.2	-	8	3761	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	NCOA6_ENST00000359003.2_Silent_p.G397G			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	397	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGTGAACTGGCCTGGGTTGC	0.592000													32	59					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960522	7960522	+	Silent	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:7960522G>A	ENST00000360759.3	-	1	619	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTAGTACCGGGGGAGTCTCAC	0.438000													16	70					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496126	76496126	+	Missense_Mutation	SNP	G	G	A			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr15:76496126G>A	ENST00000388942.3	+	11	1342	c.1066G>A	c.(1066-1068)Gca>Aca	p.A356T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	356						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CACCACGGCCGCAATAGACAT	0.602000													6	236					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60695146	60695146	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:60695146C>T	ENST00000005286.4	+	3	502	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R117W	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	117						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCCACCAACGGCCAGTCCC	0.602000													74	182					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188295	32188295	+	Missense_Mutation	SNP	C	C	T			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr6:32188295C>T	ENST00000375023.3	-	6	1184	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGCTTGTGCCGCCCCAGCC	0.612000													5	177					0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149546531	149546532	+	Frame_Shift_Ins	INS	-	-	C			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr5:149546531_149546532insC	ENST00000231656.8	+	1	174_175	c.92_93insC	c.(91-93)gccfs	p.A31fs		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	31						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGCCTAcggccccccggccc	0.757													2	4	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													3	5	---	---	---	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)del	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													5	6	---	---	---	---					
DYNC2H1	79659	broad.mit.edu	37	11	103026093	103026107	+	In_Frame_Del	DEL	GAGCATCTTTCTCCA	GAGCATCTTTCTCCA	-			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:103026093_103026107delGAGCATCTTTCTCCA	ENST00000375735.2	+	25	3751_3765	c.3607_3621delGAGCATCTTTCTCCA	c.(3607-3621)del	p.EHLSP1203del	DYNC2H1_ENST00000398093.3_In_Frame_Del_p.EHLSP1203del|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1203	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTGAGAGGGGAGCATCTTTCTCCAGATCACTGGC	0.363													9	24	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)del	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccaccacc	0.675			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				2	4	---	---	---	---					
RP11-394A14.2	0	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													7	142	---	---	---	---					
ITGBL1	9358	broad.mit.edu	37	13	102106336	102106336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr13:102106336delC	ENST00000376180.3	+	2	420	c.201delC	c.(199-201)ggfs	p.G67fs	ITGBL1_ENST00000545560.2_Intron	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	67	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGGCCGGGGCCGCTGCGACT	0.746													4	6	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													7	11	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292783	102292786	+	RNA	DEL	CTCA	CTCA	-	rs61084368		TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr15:102292783_102292786delCTCA	ENST00000561463.1	+	0	829_832																		p.Q125E(1)									GATGCTGCTTCTCAGAGCTGCTGT	0.603													14	47	---	---	---	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)del	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													7	144	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													3	4	---	---	---	---					
PRDM15	63977	broad.mit.edu	37	21	43231161	43231161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-8398-01A-11D-2323-08	TCGA-62-8398-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d099cbd-bc6c-4207-a682-0d2f62d230a6	151ad557-d7fb-423c-8cba-83af9da76485	g.chr21:43231161delC	ENST00000422911.1	-	21	2696	c.2595delG	c.(2593-2595)ggfs	p.G865fs	PRDM15_ENST00000269844.3_Frame_Shift_Del_p.G1174fs|PRDM15_ENST00000538201.1_Frame_Shift_Del_p.G828fs|PRDM15_ENST00000398548.1_Frame_Shift_Del_p.G845fs|PRDM15_ENST00000447207.2_Frame_Shift_Del_p.G808fs			P57071	PRD15_HUMAN	PR domain containing 15	1174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGAATGTCTTCCCACACAATT	0.527													31	90	---	---	---	---					
