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
MBD6	0	broad.mit.edu	37	12	57921648	57921648	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:57921648A>G	ENST00000355673.3	+	9	2610	c.2254A>G	c.(2254-2256)Acc>Gcc	p.T752A	MBD6_ENST00000431731.2_Missense_Mutation_p.T752A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	752	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTCTTCACTGACCAGCAGCCC	0.577000													3	238					0	0	0.115264	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	149					0	0	0.115264	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908072	140908072	+	Silent	SNP	G	G	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:140908072G>C	ENST00000253811.6	-	23	3239	c.3099C>G	c.(3097-3099)ccC>ccG	p.P1033P	DIAPH1_ENST00000518047.1_Silent_p.P1020P|DIAPH1_ENST00000389057.5_Silent_p.P1023P|DIAPH1_ENST00000398562.2_Silent_p.P1008P|DIAPH1_ENST00000520569.1_Silent_p.P975P|DIAPH1_ENST00000398557.4_Silent_p.P1032P|DIAPH1_ENST00000398566.3_Silent_p.P1024P|DIAPH1_ENST00000389054.3_Silent_p.P1029P			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1032	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGACATCGGGATAGTCAT	0.498000													30	41					0	0	0.116897	0	0
ABCA5	23461	broad.mit.edu	37	17	67287453	67287453	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr17:67287453T>C	ENST00000392676.3	-	12	1574	c.1510A>G	c.(1510-1512)Ata>Gta	p.I504V	ABCA5_ENST00000588877.1_Missense_Mutation_p.I504V|ABCA5_ENST00000392677.2_Missense_Mutation_p.I504V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	504	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCCTCATATATGTCAAATGAC	0.363000													9	38					0	0	0.069234	0	0
MYO10	4651	broad.mit.edu	37	5	16769308	16769308	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:16769308G>A	ENST00000513610.1	-	10	1389	c.935C>T	c.(934-936)gCa>gTa	p.A312V		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	312	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACGTCCATTGCCGTCTAGAA	0.373000													14	8					0	0	0.105934	0	0
MED23	9439	broad.mit.edu	37	6	131926420	131926420	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:131926420T>C	ENST00000403834.3	-	14	1764	c.1591A>G	c.(1591-1593)Atg>Gtg	p.M531V	MED23_ENST00000368068.3_Missense_Mutation_p.M525V|MED23_ENST00000354577.4_Missense_Mutation_p.M531V|MED23_ENST00000368060.3_Missense_Mutation_p.M525V|MED23_ENST00000540546.1_Missense_Mutation_p.M531V|MED23_ENST00000368058.1_Missense_Mutation_p.M531V|MED23_ENST00000545957.1_Missense_Mutation_p.M166V|MED23_ENST00000539158.1_Intron|MED23_ENST00000368053.4_Missense_Mutation_p.M531V			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	525					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGGAGGTTCATAGGTAAGGGG	0.393000													3	85					0	0	0.009096	0	0
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597000													5	69					0	0	0.014758	0	0
BNIP3P1	0	broad.mit.edu	37	14	28733965	28733965	+	RNA	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr14:28733965G>A	ENST00000550043.1	+	0	370																											AGCCCACCTCGCTCACAGACA	0.453000													28	89					0	0	0.099896	0	0
WDR5B	54554	broad.mit.edu	37	3	122134317	122134317	+	Missense_Mutation	SNP	T	T	G	rs144433176	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr3:122134317T>G	ENST00000330689.4	-	1	565	c.59A>C	c.(58-60)aAt>aCt	p.N20T		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	20										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTTGCTCTGATTGGCCGATGA	0.498000													76	103					0	0	0.139131	0	0
PLB1	151056	broad.mit.edu	37	2	28808648	28808648	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:28808648T>C	ENST00000422425.2	+	25	1765	c.1721T>C	c.(1720-1722)cTg>cCg	p.L574P	PLB1_ENST00000329020.6_Missense_Mutation_p.L273P|PLB1_ENST00000327757.5_Missense_Mutation_p.L585P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	585	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGTCCTGAAGTTTGAT	0.468000													3	99					0	0	0.009096	0	0
DACH1	1602	broad.mit.edu	37	13	72204797	72204797	+	Silent	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr13:72204797A>G	ENST00000305425.4	-	3	1445	c.1023T>C	c.(1021-1023)gcT>gcC	p.A341A	DACH1_ENST00000359684.2_Silent_p.A341A|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.A341A	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	339	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTGCTTcagcaatagctg	0.393000													3	208					0	0	0.115264	0	0
CASP4	837	broad.mit.edu	37	11	104825694	104825694	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:104825694C>T	ENST00000444739.2	-	2	952	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CASP4_ENST00000393150.3_5'UTR|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	14	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCAGGGATTCCAACACCTTAA	0.388000													27	63					0	0	0.116897	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572142	120572142	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:120572142G>A	ENST00000300648.6	-	53	7282	c.7270C>T	c.(7270-7272)Cgg>Tgg	p.R2424W		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2424					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTTTTTCCGGATGACGGCA	0.592000													10	98					0	0	0.105934	0	0
SNX22	79856	broad.mit.edu	37	15	64446698	64446698	+	Silent	SNP	G	G	A	rs143435068	by1000genomes	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr15:64446698G>A	ENST00000325881.4	+	7	632	c.573G>A	c.(571-573)ccG>ccA	p.P191P		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	191				P -> L (in Ref. 2; BAB14776).	cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						CTCTGCCACCGATGCCCTGAT	0.572000													129	134					0	0	0.139131	0	0
PRG4	10216	broad.mit.edu	37	1	186276474	186276474	+	Silent	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr1:186276474T>C	ENST00000445192.2	+	7	1668	c.1623T>C	c.(1621-1623)acT>acC	p.T541T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T498T|PRG4_ENST00000367483.4_Silent_p.T500T|PRG4_ENST00000367485.4_Silent_p.T448T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	541	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTACCAAGTCTG	0.637000													6	122					0	0	0.047766	0	0
OR1J2	26740	broad.mit.edu	37	9	125273586	125273586	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr9:125273586G>T	ENST00000335302.5	+	1	506	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTGTCTTTCTGTGCTGCGAAC	0.522000													23	148					2.44723e-14	3.05904e-14	0.099896	1	0
LRRC56	115399	broad.mit.edu	37	11	552111	552111	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:552111C>G	ENST00000270115.7	+	12	1560	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	354										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCGAGCAGCTGCCCCAACA	0.677000													33	84					0	0	0.059317	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	61					0	0	0.009096	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279994	39279994	+	Silent	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr17:39279994T>C	ENST00000394014.1	-	1	425	c.381A>G	c.(379-381)agA>agG	p.R127R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	127	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1).			keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcactggggtctgcagcagc	0.667000													4	81					0	0	0.009096	0	0
UBXN2B	137886	broad.mit.edu	37	8	59352245	59352245	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:59352245A>G	ENST00000399598.2	+	6	709	c.587A>G	c.(586-588)gAt>gGt	p.D196G		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	196	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGAATTTGGATATGGAGGAT	0.383000													20	119					0	0	0.055883	0	0
ZNF318	24149	broad.mit.edu	37	6	43325106	43325106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:43325106G>A	ENST00000361428.2	-	3	1023	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R316*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	316					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.R316*(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGTTCTCGAAACTCAGGG	0.522000													16	55					0	0	0.146539	0	0
FBN3	84467	broad.mit.edu	37	19	8196578	8196578	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:8196578C>T	ENST00000600128.1	-	15	2264	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	FBN3_ENST00000601739.1_Missense_Mutation_p.R617H|FBN3_ENST00000270509.2_Missense_Mutation_p.R617H			Q75N90	FBN3_HUMAN	fibrillin 3	617						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGGTGCTGCGCACGTGGGT	0.677000													14	62					0	0	0.105934	0	0
MLLT10	8028	broad.mit.edu	37	10	22022990	22022990	+	Silent	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr10:22022990T>C	ENST00000377072.3	+	21	3186	c.2838T>C	c.(2836-2838)ccT>ccC	p.P946P	MLLT10_ENST00000307729.7_Silent_p.P930P|MLLT10_ENST00000446906.2_Silent_p.P930P|MLLT10_ENST00000377059.3_Silent_p.P930P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	946					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCCAGAACCCTACCCCTCTCA	0.438000			T	"""MLL, PICALM, CDK6"""	AL								3	81					0	0	0.115264	0	0
PRSS53	339105	broad.mit.edu	37	16	31096483	31096483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr16:31096483C>A	ENST00000280606.6	-	7	1135	c.982G>T	c.(982-984)Gga>Tga	p.G328*		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	328	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						ACCAGGGCTCCGCCACAGGCC	0.667000													3	22					0.115264	0.134883	0.115264	1	0
LRRC16B	90668	broad.mit.edu	37	14	24538027	24538027	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr14:24538027C>T	ENST00000342740.5	+	38	3988	c.3834C>T	c.(3832-3834)ccC>ccT	p.P1278P	LRRC16B_ENST00000334420.7_Silent_p.P331P	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1278										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CATGGCCTCCCAAGCCAGTGG	0.637000													9	32					0	0	0.069234	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	68					0	0	0.009096	0	0
SLC12A5	57468	broad.mit.edu	37	20	44666024	44666024	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr20:44666024G>A	ENST00000454036.1	+	6	757	c.681_splice	c.e6+1	p.L227_splice	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Splice_Site_p.L204_splice|SLC12A5_ENST00000372315.1_Splice_Site_p.L204_splice	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	227					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAATCCTGCTGGTAAGAGAGG	0.582000													3	37					0	0	0.115264	0	0
CAMKK2	10645	broad.mit.edu	37	12	121706441	121706441	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:121706441G>A	ENST00000324774.5	-	5	1453	c.625_splice	c.e5+1	p.R209_splice	CAMKK2_ENST00000402834.4_Splice_Site_p.R209_splice|CAMKK2_ENST00000347034.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000337174.3_Splice_Site_p.R209_splice|CAMKK2_ENST00000392474.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000446440.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000412367.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000404169.3_Splice_Site_p.R209_splice|CAMKK2_ENST00000392473.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000538733.1_Splice_Site_p.R209_splice	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	209	Protein kinase.|RP domain.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAAACTCACGTGGAAAGCCG	0.552000													114	154					0	0	0.139131	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562935	11562935	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr1:11562935C>T	ENST00000294484.6	+	3	1435	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	PTCHD2_ENST00000389575.3_Silent_p.L433L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	433					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.L650L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGCCATGCTGGCCAAGCA	0.522000													3	70					0	0	0.009096	0	0
ENPP2	0	broad.mit.edu	37	8	120650732	120650732	+	Silent	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:120650732A>G	ENST00000427067.2	-	2	237	c.57T>C	c.(55-57)aaT>aaC	p.N19N	ENPP2_ENST00000522826.1_Silent_p.N23N|ENPP2_ENST00000075322.6_Silent_p.N23N|ENPP2_ENST00000259486.6_Silent_p.N23N			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	23					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAAGCAGATATTGACTCCAA	0.378000													38	128					0	0	0.131918	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	16					0	0	0.115264	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999781	45999781	+	Silent	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr21:45999781G>A	ENST00000400372.1	-	1	700	c.675C>T	c.(673-675)tgC>tgT	p.C225C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	225	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ATATGGGGCGGCAGAGGAGGG	0.682000													4	165					0	0	0.014758	0	0
CACTIN	58509	broad.mit.edu	37	19	3612148	3612148	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:3612148C>A	ENST00000429344.2	-	10	2102	c.2050G>T	c.(2050-2052)Gac>Tac	p.D684Y	CACTIN_ENST00000248420.5_Missense_Mutation_p.D684Y|CACTIN_ENST00000221899.3_Missense_Mutation_p.D616Y|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		TCGATGAGGTCGGGGTAGAAG	0.592000													47	190					9.58827e-17	1.22641e-16	0.139131	1	0
GPR155	151556	broad.mit.edu	37	2	175335223	175335223	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:175335223C>T	ENST00000392552.2	-	4	1159	c.921G>A	c.(919-921)gtG>gtA	p.V307V	GPR155_ENST00000392551.2_Silent_p.V307V|GPR155_ENST00000295500.4_Silent_p.V307V	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	307					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TATGGTTCACCACACTGTCGC	0.408000													5	54					0	0	0.029380	0	0
CCL24	6369	broad.mit.edu	37	7	75441263	75441263	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:75441263G>C	ENST00000416943.1	-	4	304	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	CCL24_ENST00000222902.2_Missense_Mutation_p.Q71E	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	71					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						CAGAACTGCTGGCCCTTCTTG	0.612000													3	97					0	0	0.115264	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				65	50					0	0	0.139131	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													3	24					0	0	0.115264	0	0
TUFT1	7286	broad.mit.edu	37	1	151542172	151542172	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr1:151542172A>G	ENST00000368849.3	+	7	582	c.520A>G	c.(520-522)Aag>Gag	p.K174E	TUFT1_ENST00000392712.3_Missense_Mutation_p.K119E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K149E|TUFT1_ENST00000538902.1_Missense_Mutation_p.K193E|TUFT1_ENST00000353024.3_Missense_Mutation_p.K115E	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	174					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCTTGAGGAAGACGGTGCA	0.517000													4	419					0	0	0.014758	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957538	50957538	+	Silent	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:50957538G>A	ENST00000357701.5	+	18	1977	c.1926G>A	c.(1924-1926)ccG>ccA	p.P642P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	642	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGACCCCCCGGAGGCTGTGC	0.647000													6	65					0	0	0.021553	0	0
BEND6	221336	broad.mit.edu	37	6	56883337	56883337	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:56883337T>A	ENST00000370746.3	+	6	1100	c.831T>A	c.(829-831)gaT>gaA	p.D277E	BEND6_ENST00000545789.1_Missense_Mutation_p.D179E|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	277										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ACTCTCAGGATATTAAATAGA	0.313000													18	32					0	0	0.033300	0	0
EHD2	30846	broad.mit.edu	37	19	48244668	48244668	+	Silent	SNP	C	C	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:48244668C>A	ENST00000263277.3	+	6	1862	c.1611C>A	c.(1609-1611)cgC>cgA	p.R537R	EHD2_ENST00000538399.1_Silent_p.R401R|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	537	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCAAGCGACGCCACAAGGGCT	0.716000													9	9					3.09899e-07	3.78765e-07	0.047766	1	0
PTGDR2	11251	broad.mit.edu	37	11	60620166	60620167	+	In_Frame_Ins	INS	-	-	GCG	rs55642873		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:60620166_60620167insGCG	ENST00000332539.4	-	2	1140_1141	c.1029_1030insCGC	c.(1027-1032)cgcctc>cgCGCcctc	p.343_344RL>RAL		NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN	prostaglandin D2 receptor 2	343					immune response	integral to plasma membrane	N-formyl peptide receptor activity										GTGGAGGAGGTGCGGCGGCGGC	0.748													4	3	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gag>g	p.EQ906del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	906					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													4	6	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39923030	39923031	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chrX:39923030_39923031insT	ENST00000342274.4	-	8	3937_3938	c.3575_3576insA	c.(3574-3576)gggfs	p.G1192fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.G1192fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.G1174fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.G1226fs|BCOR_ENST00000378463.1_Frame_Shift_Ins_p.G69fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1226					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAGGTTTGCCATCTGCTGCCGA	0.540			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						59	42	---	---	---	---					
