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
MTOR	2475	broad.mit.edu	37	1	11188183	11188183	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:11188183C>T	uc001asd.3	-	43	6032	c.5911_splice	c.e43-1	p.A1971_splice	MTOR_uc001asc.3_Splice_Site_p.A176_splice	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1971	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TAGATGAGGGCCTGAGGGAAA	0.458												
C1QC	714	broad.mit.edu	37	1	22973963	22973963	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:22973963C>T	uc001bgc.4	+	2	528	c.425C>T	c.(424-426)gCg>gTg	p.A142V	C1QC_uc001bga.4_Missense_Mutation_p.A142V	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	142	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGATTCAACGCGGTCCTCACC	0.567												
SPOCD1	90853	broad.mit.edu	37	1	32279589	32279589	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:32279589C>T	uc001bts.1	-	1	1404	c.1346G>A	c.(1345-1347)aGg>aAg	p.R449K	SPOCD1_uc001btu.3_Missense_Mutation_p.R449K|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	449					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCCTCTGGCCTGTCCTGGTG	0.567												
LPAR3	23566	broad.mit.edu	37	1	85331474	85331474	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85331474G>A	uc001dkl.2	-	0	369	c.330C>T	c.(328-330)gaC>gaT	p.D110D	LPAR3_uc009wcj.1_Silent_p.D110D	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	110					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCAAGCTACTGTCCAGAAGCC	0.493												
WDR63	126820	broad.mit.edu	37	1	85564213	85564213	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85564213C>G	uc001dkt.3	+	13	1542	c.1351_splice	c.e13-1	p.P451_splice	WDR63_uc009wcl.3_Splice_Site_p.P412_splice	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	451										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATTTTTCAGCCTATGTTTCT	0.318												
ADAM30	11085	broad.mit.edu	37	1	120438173	120438173	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:120438173G>A	uc001eij.3	-	0	975	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	263	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATCCAACGCGTATTTTGTTA	0.358												
FLG	2312	broad.mit.edu	37	1	152277058	152277058	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:152277058C>T	uc001ezu.1	-	2	10340	c.10304G>A	c.(10303-10305)cGt>cAt	p.R3435H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3435	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGGTGTCCACGAATGGTGTC	0.602									Ichthyosis			
PTEN	5728	broad.mit.edu	37	10	89690805	89690805	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:89690805G>A	uc001kfb.3	+	3	1244	c.212G>A	c.(211-213)tGt>tAt	p.C71Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	71	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L70fs*7(8)|p.?(6)|p.C71Y(6)|p.R55fs*1(5)|p.C71fs*6(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L70P(1)|p.L70F(1)|p.C71W(1)|p.R55_L70>S(1)|p.F56fs*2(1)|p.C71fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTTAGTTGTGCTGAAAGA	0.303		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
CPN1	1369	broad.mit.edu	37	10	101835788	101835788	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:101835788C>T	uc001kql.2	-	1	560	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	100	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S100L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACAGAAACTCCGACAGCTGCA	0.582												
GTF2H1	2965	broad.mit.edu	37	11	18369172	18369172	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:18369172C>G	uc001moi.2	+	8	1569	c.875C>G	c.(874-876)tCt>tGt	p.S292C	GTF2H1_uc001moh.2_Missense_Mutation_p.S292C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S176C	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	292				S -> P (in Ref. 2; BAB15621).	mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCTTCCAATTCTAAATCCATA	0.363								Nucleotide excision repair (NER)				
DEPDC7	91614	broad.mit.edu	37	11	33049298	33049299	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:33049298_33049299delTC	uc001mub.3	+	2	623_624	c.531_532delTC	c.(529-534)aatctgfs	p.N177fs	DEPDC7_uc010reh.1_Frame_Shift_Del_p.N177fs|DEPDC7_uc001muc.3_Frame_Shift_Del_p.N168fs	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.	177					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TGTGggaaaatctgagtttaaa	0.376												
NUMA1	4926	broad.mit.edu	37	11	71729878	71729878	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:71729878T>C	uc001orl.1	-	9	905	c.733A>G	c.(733-735)Acc>Gcc	p.T245A	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.T245A|NUMA1_uc001orm.1_Missense_Mutation_p.T245A|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.T245A|NUMA1_uc001oro.1_Missense_Mutation_p.T245A|NUMA1_uc009ysy.2_Missense_Mutation_p.T245A|NUMA1_uc001orp.3_Missense_Mutation_p.T245A|NUMA1_uc001orq.3_Missense_Mutation_p.T245A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	245					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCTCGGTGAGGAGCTTG	0.577			T	RARA	APL							
MMP3	4314	broad.mit.edu	37	11	102713433	102713433	+	Missense_Mutation	SNP	G	G	A	rs151123532		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:102713433G>A	uc001phj.1	-	1	385	c.320C>T	c.(319-321)cCg>cTg	p.P107L		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	107					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCTCCACTTCGGGATGCCAGG	0.473												
KDM5A	5927	broad.mit.edu	37	12	416884	416884	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:416884C>T	uc001qif.1	-	22	4029	c.3666G>A	c.(3664-3666)agG>agA	p.R1222R		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1222					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGTCTCTAGCCTGGGCCTTC	0.478			T	NUP98	AML							
RERGL	79785	broad.mit.edu	37	12	18237478	18237478	+	Missense_Mutation	SNP	C	C	T	rs61757396	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:18237478C>T	uc001rdq.3	-	4	502	c.308G>A	c.(307-309)cGg>cAg	p.R103Q		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	103	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.R103Q(3)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTGGCTCCCGGATTCTGTA	0.383												
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488												
LMO7	4008	broad.mit.edu	37	13	76301190	76301190	+	Missense_Mutation	SNP	G	G	A	rs140368500	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr13:76301190G>A	uc021rkq.1	+	2	501	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	LMO7_uc010thv.2_Missense_Mutation_p.V108I|LMO7_uc001vjt.1_Missense_Mutation_p.V56I	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	108	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.V108I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAACCTGGCGTCATTAAGAA	0.303												
C14orf39	317761	broad.mit.edu	37	14	60938273	60938273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr14:60938273G>A	uc001xez.4	-	5	618	c.508C>T	c.(508-510)Cga>Tga	p.R170*	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	170										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTAATACCTCGAAATTTCATA	0.249												
RYR3	6263	broad.mit.edu	37	15	33855071	33855071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:33855071C>T	uc001zhi.3	+	10	1076	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	RYR3_uc010bar.3_Nonsense_Mutation_p.R336*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	336					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGTCACAAGCGAGACATAGA	0.398												
EXD1	161829	broad.mit.edu	37	15	41488149	41488149	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:41488149T>G	uc010ucv.2	-	7	893	c.621A>C	c.(619-621)gaA>gaC	p.E207D	EXD1_uc001znk.3_Missense_Mutation_p.E149D	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	149					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTCTTGTCTTCTAGTATCA	0.378												
CLCN7	1186	broad.mit.edu	37	16	1507256	1507256	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:1507256T>C	uc002clv.2	-	9	932	c.822_splice	c.e9+1	p.K274_splice	CLCN7_uc002clw.2_Splice_Site_p.K250_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	274						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592												
MKL2	57496	broad.mit.edu	37	16	14234551	14234551	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:14234551C>G	uc010uza.2	+	2	243	c.88C>G	c.(88-90)Cat>Gat	p.H30D	MKL2_uc002dcg.3_Missense_Mutation_p.H30D	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGTGGCTCATGAATTCCA	0.488												
SETD1A	9739	broad.mit.edu	37	16	30977133	30977133	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:30977133C>G	uc002ead.1	+	7	2617	c.1931C>G	c.(1930-1932)cCt>cGt	p.P644R		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	644	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCGCCGCCCCCTGAGTACCCC	0.652												
NF1	4763	broad.mit.edu	37	17	29496924	29496927	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:29496924_29496927delTGTT	uc002hgg.3	+	4	878_881	c.495_498delTGTT	c.(493-498)actgttfs	p.T165fs	NF1_uc002hge.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T165fs|NF1_uc010csn.2_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	165					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.C167fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGAATTAACTGTTTGTTCAGAAG	0.328			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRT36	8689	broad.mit.edu	37	17	39644595	39644595	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:39644595C>T	uc002hwt.3	-	2	599	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	200	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGATCCTACGCAGGCCGTT	0.577												
BCAS3	54828	broad.mit.edu	37	17	58756885	58756885	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:58756885C>T	uc002iyv.4	+	1	176	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.4_Missense_Mutation_p.R23C|BCAS3_uc002iyw.4_Missense_Mutation_p.R19C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	23						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTGTGGTTCGCCCCCAGGC	0.403												
ABCA10	10349	broad.mit.edu	37	17	67212489	67212489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:67212489C>A	uc010dfa.1	-	7	1420	c.541G>T	c.(541-543)Gga>Tga	p.G181*	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Nonsense_Mutation_p.G73*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	181					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATGTCAATCCCCAGGAGAGC	0.368												
KCNJ16	3773	broad.mit.edu	37	17	68128849	68128849	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:68128849G>A	uc002jiq.3	+	2	857	c.717G>A	c.(715-717)cgG>cgA	p.R239R	KCNJ16_uc002jin.3_Silent_p.R207R|KCNJ16_uc002jio.3_Silent_p.R207R|KCNJ16_uc002jip.3_Silent_p.R207R|KCNJ16_uc021uch.1_Silent_p.R207R	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	207					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GTGATTTTCGGCCAAACCACG	0.468												
ZNF556	80032	broad.mit.edu	37	19	2877814	2877814	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:2877814G>A	uc002lwp.1	+	3	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_uc002lwq.3_Silent_p.P285P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAGGGAGACCGTATGAGTGCA	0.517												
CCDC105	126402	broad.mit.edu	37	19	15132710	15132710	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15132710G>A	uc002nae.2	+	5	1329	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	410					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCCAACTCCCGGAGGCTGCGC	0.632												
CYP4F22	126410	broad.mit.edu	37	19	15648391	15648391	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15648391G>A	uc002nbh.4	+	5	634	c.467G>A	c.(466-468)cGt>cAt	p.R156H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	156						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R156L(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCCGGCACCGTCGCCTGCTG	0.542												
FFAR2	2867	broad.mit.edu	37	19	35940986	35940986	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:35940986C>T	uc002nzg.2	+	1	450	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	FFAR2_uc010eea.3_Silent_p.L124L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	124						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCGCCGGCCTCTGTATGGAGT	0.577												
MAP4K1	11184	broad.mit.edu	37	19	39098515	39098515	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:39098515G>A	uc002oix.1	-	15	1254	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	MAP4K1_uc002oiy.1_Silent_p.D382D|MAP4K1_uc010xug.2_Silent_p.D44D	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	382					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCCACGTCGTCATAGTCAT	0.597												
DMPK	1760	broad.mit.edu	37	19	46275974	46275974	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:46275974C>T	uc002pdi.1	-	10	1533	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Silent_p.L334L|DMPK_uc002pdd.1_Silent_p.L433L|DMPK_uc002pde.1_Silent_p.L428L|DMPK_uc002pdg.1_Silent_p.L418L|DMPK_uc002pdf.1_Silent_p.L423L|DMPK_uc002pdh.1_Silent_p.L418L|DMPK_uc010xxt.1_Silent_p.L418L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	433					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTCGGCCTCCAGTTCCATGG	0.627												
ZNF831	128611	broad.mit.edu	37	20	57766702	57766702	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr20:57766702G>A	uc002yan.3	+	0	628	c.628G>A	c.(628-630)Ggg>Agg	p.G210R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	210						intracellular	nucleic acid binding|zinc ion binding	p.A209V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGAGGGCGCCGGGGGCGGCCT	0.677												
IFNGR2	3460	broad.mit.edu	37	21	34799266	34799266	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr21:34799266T>C	uc002yrp.4	+	3	1136	c.488T>C	c.(487-489)tTt>tCt	p.F163S		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	163	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCCTCTCCCTTTGACATCGCT	0.443												
BPIFC	254240	broad.mit.edu	37	22	32828360	32828360	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:32828360G>A	uc003amn.2	-	10	1149	c.1149_splice	c.e10+1	p.F383_splice	BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Splice_Site_p.F107_splice	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	383						extracellular region	lipopolysaccharide binding|phospholipid binding										CCAGACTTACGAAGTCCATGG	0.517												
MYH9	4627	broad.mit.edu	37	22	36696181	36696181	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:36696181G>A	uc003apg.3	-	22	3199	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L	MYH9_uc003aph.1_Silent_p.L854L	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	990					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCTTGGCCAGCTTGCAGTTC	0.662			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated			
TMEM184B	25829	broad.mit.edu	37	22	38617546	38617546	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:38617546C>T	uc003avf.1	-	8	1378	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	TMEM184B_uc003avh.2_Missense_Mutation_p.R319H|TMEM184B_uc003avg.2_Missense_Mutation_p.R385H|TMEM184B_uc021wpo.1_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	385						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GCTGTGGGAGCGGGAGAGGCC	0.652												
MEI1	150365	broad.mit.edu	37	22	42191460	42191460	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:42191460G>C	uc003baz.1	+	28	3605	c.3580G>C	c.(3580-3582)Ggt>Cgt	p.G1194R	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.G580R|MEI1_uc003bbc.1_Missense_Mutation_p.G562R|MEI1_uc010gym.1_Missense_Mutation_p.G527R|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc003bbg.2_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1194							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAAGAGGTGGGTGATGTTCT	0.557												
PANX2	56666	broad.mit.edu	37	22	50617532	50617532	+	Silent	SNP	C	C	T	rs145485598		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:50617532C>T	uc003bjn.4	+	2	1860	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	PANX2_uc003bjp.4_Silent_p.N486N|PANX2_uc003bjo.4_Silent_p.N620N	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	620					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGAGCCGAAACGCCACACACC	0.716												
FBLN2	2199	broad.mit.edu	37	3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:13679189G>A	uc011avc.2	+	17	3848	c.3466G>A	c.(3466-3468)Gcg>Acg	p.A1156T	FBLN2_uc011auz.2_Missense_Mutation_p.A1135T|FBLN2_uc011avb.2_Missense_Mutation_p.A1109T|FBLN2_uc011ava.2_Missense_Mutation_p.A1156T	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622												
SCN10A	6336	broad.mit.edu	37	3	38833608	38833608	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:38833608G>A	uc003ciq.3	-	1	322	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	108					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACAGGGCCCGAGTGGCACTA	0.463												
CCDC71	64925	broad.mit.edu	37	3	49200468	49200468	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:49200468T>C	uc003cwg.4	-	1	1312	c.1174A>G	c.(1174-1176)Agg>Ggg	p.R392G	CCDC71_uc021wxs.1_Missense_Mutation_p.R392G	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	392										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCTCAGCCCTTTTCCTCTTC	0.572												
GPR128	84873	broad.mit.edu	37	3	100365559	100365559	+	Silent	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:100365559T>C	uc003duc.3	+	9	1525	c.1257T>C	c.(1255-1257)gcT>gcC	p.A419A	GPR128_uc011bhc.2_Silent_p.A120A	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	419	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTAATTTTGCTGTATTAATGG	0.413												
PHLDB2	90102	broad.mit.edu	37	3	111603461	111603461	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:111603461G>C	uc010hqa.3	+	1	948	c.537G>C	c.(535-537)atG>atC	p.M179I	PHLDB2_uc003dyc.3_Missense_Mutation_p.M206I|PHLDB2_uc003dyd.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyg.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyh.3_Missense_Mutation_p.M179I|PHLDB2_uc003dye.4_Missense_Mutation_p.M179I|PHLDB2_uc003dyf.4_Missense_Mutation_p.M179I	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	179						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCTGGCCATGTGGAATGGAA	0.537												
CASR	846	broad.mit.edu	37	3	122003132	122003132	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:122003132C>T	uc003eew.4	+	6	2799	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	CASR_uc003eev.4_Silent_p.I777I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	777					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTTCCTGATCGGCTACACCT	0.582												
SDHAP2	727956	broad.mit.edu	37	3	195410640	195410640	+	Silent	SNP	T	T	C	rs6583273	by1000genomes	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:195410640T>C	uc003fuw.3	+	12	1731	c.537T>C	c.(535-537)taT>taC	p.Y179Y	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		TTGATGAGTATGATCACTCCA	0.468												
SDHAP2	727956	broad.mit.edu	37	3	195410687	195410687	+	Missense_Mutation	SNP	T	T	A	rs6583274	by1000genomes	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:195410687T>A	uc003fuw.3	+	12	1778	c.584T>A	c.(583-585)gTg>gAg	p.V195E	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCCTTTGAGGTGCACTGGAGG	0.567												
UGT2B28	54490	broad.mit.edu	37	4	70146911	70146911	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:70146911G>T	uc003hej.3	+	0	695	c.693G>T	c.(691-693)aaG>aaT	p.K231N	UGT2B28_uc010ihr.3_Missense_Mutation_p.K231N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	231					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATATGAAGAAGTGGGATCAGT	0.323												
INTS12	57117	broad.mit.edu	37	4	106604288	106604288	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:106604288C>T	uc003hxw.3	-	7	1249	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	INTS12_uc010ilr.3_Missense_Mutation_p.V331M	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	331	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTCAAACCCACAGGTTTCTGG	0.448												
CDH18	1016	broad.mit.edu	37	5	19544080	19544080	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:19544080A>T	uc003jgd.3	-	8	1822	c.1288T>A	c.(1288-1290)Ttt>Att	p.F430I	CDH18_uc011cnm.2_Missense_Mutation_p.F430I|CDH18_uc003jgc.3_Missense_Mutation_p.F430I|CDH18_uc021xwu.1_Missense_Mutation_p.F430I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	430	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTTGAAAAATCTGTCGTCT	0.353												
MAP1B	4131	broad.mit.edu	37	5	71490832	71490832	+	Silent	SNP	A	A	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:71490832A>G	uc003kbw.4	+	4	1891	c.1650A>G	c.(1648-1650)aaA>aaG	p.K550K	MAP1B_uc010iyw.1_Silent_p.K567K|MAP1B_uc010iyx.1_Silent_p.K424K|MAP1B_uc010iyy.1_Silent_p.K424K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	550						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCGCAAAACCACTTCCTA	0.493												
HIST1H2BA	255626	broad.mit.edu	37	6	25727356	25727356	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:25727356C>T	uc003nfd.3	+	0	220	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	74					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TATCTTTGAGCGTATAGCGAG	0.483												
HIST1H2BE	8344	broad.mit.edu	37	6	26184091	26184093	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:26184091_26184093delAGA	uc003ngt.3	+	0	68_70	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						ACCAAGGCGCAGAAGAAGGACGG	0.576												
TRIM10	10107	broad.mit.edu	37	6	30121907	30121907	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:30121907G>A	uc003npo.3	-	6	1361	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	429	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CTCACCTGCCGGGGCTGCTCC	0.642												
MICB	4277	broad.mit.edu	37	6	31474137	31474137	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:31474137C>T	uc003ntn.4	+	2	659	c.543C>T	c.(541-543)cgC>cgT	p.R181R	MICB_uc011dnm.2_Silent_p.R149R|MICB_uc021yuq.1_Silent_p.R149R|MICB_uc003nto.4_Silent_p.R138R	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	181					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CACACTATCGCGCTATGCAGG	0.532												
MEP1A	4224	broad.mit.edu	37	6	46797155	46797155	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46797155G>A	uc011dwh.1	+	8	1083	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	MEP1A_uc010jzh.1_Missense_Mutation_p.E331K|MEP1A_uc011dwg.1_Missense_Mutation_p.E53K|MEP1A_uc011dwi.1_Missense_Mutation_p.E231K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	331	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.V359I(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGCCCTACTGGAGTCTCGGAT	0.532												
GPR116	221395	broad.mit.edu	37	6	46845996	46845996	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46845996C>A	uc003oyo.3	-	9	1472	c.1183G>T	c.(1183-1185)Ggt>Tgt	p.G395C	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G395C|GPR116_uc010jzi.1_Missense_Mutation_p.G67C|GPR116_uc003oyr.2_Missense_Mutation_p.G395C	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	395	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTAACATTACCCTGACTGCAG	0.373												
SYNE1	23345	broad.mit.edu	37	6	152527476	152527476	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:152527476G>A	uc021zhb.1	-	123	23069	c.22846C>T	c.(22846-22848)Cgg>Tgg	p.R7616W	SYNE1_uc003qos.4_Missense_Mutation_p.R2140W|SYNE1_uc003qot.4_Missense_Mutation_p.R7545W|SYNE1_uc003qou.4_Missense_Mutation_p.R7616W|SYNE1_uc003qor.4_Missense_Mutation_p.R516W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7616					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTGTTGCCGCAGAAACACT	0.483										HNSCC(10;0.0054)		
UNC93A	54346	broad.mit.edu	37	6	167709567	167709567	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:167709567C>T	uc003qvq.3	+	2	492	c.317C>T	c.(316-318)cCg>cTg	p.P106L	UNC93A_uc003qvr.3_Missense_Mutation_p.P106L	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	106						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGCCGCCCCGCTGTGGTCT	0.557												
SDK1	221935	broad.mit.edu	37	7	4153883	4153883	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:4153883T>C	uc003smx.3	+	24	3939	c.3800T>C	c.(3799-3801)gTg>gCg	p.V1267A	SDK1_uc010kso.3_Missense_Mutation_p.V543A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1267	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGAGGTGGTGCGGGGCCGG	0.637												
DPY19L2P1	554236	broad.mit.edu	37	7	35187487	35187487	+	Translation_Start_Site	SNP	C	C	T	rs73095561	by1000genomes	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:35187487C>T	uc003teq.1	-	7					DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		CCACATCACACGGGTGGCCTG	0.353												
ZNF679	168417	broad.mit.edu	37	7	63727109	63727109	+	Silent	SNP	T	T	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:63727109T>A	uc003tsx.3	+	4	1367	c.1098T>A	c.(1096-1098)acT>acA	p.T366T		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTCCTCAACTCTTAATACTC	0.378												
MUC17	140453	broad.mit.edu	37	7	100696360	100696360	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:100696360C>T	uc003uxp.1	+	9	13250	c.13197C>T	c.(13195-13197)gtC>gtT	p.V4399V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4399						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.G4398G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCAGGGGTCGTGCTGATGC	0.587												
OR2A1	346528	broad.mit.edu	37	7	143929644	143929644	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:143929644G>A	uc011kub.2	-	0	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T98M(1)		large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					AAAGGTCTGCGTCATGCAACC	0.572												
NOBOX	135935	broad.mit.edu	37	7	144098530	144098530	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:144098530G>A	uc022aoj.1	-	3	453	c.453C>T	c.(451-453)acC>acT	p.T151T		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	151					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CATCAGCCCCGGTGGCTTCTC	0.637												
CALB1	793	broad.mit.edu	37	8	91094855	91094855	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:91094855T>C	uc003yel.1	-	0	253	c.71A>G	c.(70-72)gAc>gGc	p.D24G	CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	24	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACCGTCAGCGTCGAAATGGAG	0.502												
ASAP1	50807	broad.mit.edu	37	8	131140283	131140283	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:131140283C>T	uc003yta.2	-	15	1499	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	ASAP1_uc003ysz.2_Missense_Mutation_p.R235H|ASAP1_uc011liw.2_Missense_Mutation_p.R417H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	424					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTGCTCTCCACGGAAGGCCAT	0.458												
ANKS6	203286	broad.mit.edu	37	9	101530471	101530471	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:101530471T>A	uc004ayu.3	-	10	2055	c.2034A>T	c.(2032-2034)ttA>ttT	p.L678F	ANKS6_uc004ayv.2_Missense_Mutation_p.L140F|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.L377F	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	678	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTGCTCCAATAATCCGGCTG	0.582												
SMC2	10592	broad.mit.edu	37	9	106889054	106889054	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:106889054G>A	uc004bbv.3	+	18	2872	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	SMC2_uc004bbw.3_Missense_Mutation_p.A862T|SMC2_uc011lvl.2_Missense_Mutation_p.A862T|SMC2_uc004bbx.3_Missense_Mutation_p.A862T|SMC2_uc004bby.3_5'Flank	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	862					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCTGAGGTGGCTAAAAATAA	0.338												
COL27A1	85301	broad.mit.edu	37	9	117014903	117014903	+	Missense_Mutation	SNP	G	G	A	rs141446597		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:117014903G>A	uc011lxl.2	+	25	3064	c.3064G>A	c.(3064-3066)Gtg>Atg	p.V1022M	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1022	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCCCCAGGCGTGCCTGGACC	0.607												
FAM47B	170062	broad.mit.edu	37	X	34962109	34962109	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:34962109G>A	uc004ddi.2	+	0	1197	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	387										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATCCTGTCCGCGGCCTTTTG	0.567												
FAM45A	55855	broad.mit.edu	37	X	129629950	129629950	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:129629950G>A	uc010nrh.3	+	0	1036	c.818G>A	c.(817-819)gGc>gAc	p.G273D	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	273								p.G273D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ATGGCAATGGGCAAACTGCAC	0.448