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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GAS2L2	246176	broad.mit.edu	37	17	34072135	34072135	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:34072135C>T	uc002hjv.2	-	5	2409	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	794					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632000														261			16		0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141528521	141528521	+	Missense_Mutation	SNP	G	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:141528521G>T	uc002tvj.1	-	33	6527	c.5555C>A	c.(5554-5556)aCa>aAa	p.T1852K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1852	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTCAGATGTTGGTAAACA	0.353000										TSP Lung(27;0.18)				215			13		0.00010058	0.000119206	0.001368	1	0
OR13C2	392376	broad.mit.edu	37	9	107367614	107367614	+	Missense_Mutation	SNP	C	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:107367614C>A	uc011lvq.2	-	0	295	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACATCTGCACTGCACAGCCA	0.522000														232			21		2.79863e-10	3.44447e-10	0.004656	1	0
CACNA2D1	781	broad.mit.edu	37	7	81624211	81624211	+	Silent	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:81624211G>A	uc003uhr.1	-	19	1963	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	588						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCAGAGTTCTGAATGTTTTTT	0.299000														112			6		0	0	0.001168	0	0
MYH8	4626	broad.mit.edu	37	17	10309482	10309482	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:10309482C>G	uc002gmm.2	-	20	2403	c.2308G>C	c.(2308-2310)Gct>Cct	p.A770P	AK097500_uc002gml.1_Non-coding_Transcript	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	770	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGTCCAGCTTTGAAGAAA	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					77			48		0	0	0.003610	0	0
CCDC158	339965	broad.mit.edu	37	4	77244544	77244544	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:77244544A>G	uc003hkb.4	-	22	3329	c.3176T>C	c.(3175-3177)aTa>aCa	p.I1059T		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1059										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTGTTTCTATTGGCGGAGA	0.353000														343			35		0	0	0.002836	0	0
VSIG1	340547	broad.mit.edu	37	X	107310285	107310285	+	Silent	SNP	T	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:107310285T>C	uc011msk.2	+	3	602	c.441T>C	c.(439-441)agT>agC	p.S147S	VSIG1_uc004eno.3_Silent_p.S111S	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	111	Ig-like C2-type 2.		V -> I (in dbSNP:rs17254305).			integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGCAGACAGTGGAATTTACA	0.463000														166			4		0	0	0.000248	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871757	12871757	+	Splice_Site	SNP	A	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:12871757A>C	uc001rat.2	+	2	948	c.476_splice	c.e2-2	p.D159_splice		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	159					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTGCGCTTAGATTCTTCTA	0.433000														295			6		0	0	0.001984	0	0
CUBN	8029	broad.mit.edu	37	10	16883005	16883005	+	Silent	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:16883005C>T	uc001ioo.3	-	60	9757	c.9705G>A	c.(9703-9705)acG>acA	p.T3235T		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3235	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCACAAAACGTTCCAGCCA	0.363000														99			16		0	0	0.004007	0	0
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:96761615G>A	uc003htr.4	+	0	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517000														228			5		0	0	0.000602	0	0
SNX17	9784	broad.mit.edu	37	2	27599364	27599364	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:27599364C>T	uc002rkg.1	+	13	1498	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	SNX17_uc010ylj.1_Missense_Mutation_p.R406W|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Missense_Mutation_p.R212W|SNX17_uc010yll.1_Missense_Mutation_p.R212W|SNX17_uc010ylm.1_Missense_Mutation_p.R212W|SNX17_uc010yln.1_Missense_Mutation_p.R414W|SNX17_uc010ylo.1_Missense_Mutation_p.R344W|SNX17_uc010ylp.1_Missense_Mutation_p.R401W|SNX17_uc010ylk.1_Missense_Mutation_p.R212W|SNX17_uc010eza.1_Missense_Mutation_p.R212W|SNX17_uc010ylq.1_Missense_Mutation_p.R212W	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	426					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACCCGGGAGTCTAT	0.572000														258			77		0	0	0.003610	0	0
C11orf75	56935	broad.mit.edu	37	11	93212240	93212240	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:93212240G>A	uc021qos.1	-	0	116	c.116C>T	c.(115-117)gCc>gTc	p.A39V	C11orf75_uc001pds.4_Missense_Mutation_p.A39V	NM_020179	NP_064564	Q9NRQ5	CK075_HUMAN	Homo sapiens chromosome 11 open reading frame 75 (C11orf75), mRNA.	39						integral to membrane				endometrium(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACGACCACGGCCAGCGTGGG	0.652000														92			10		0	0	0.008291	0	0
PSD	5662	broad.mit.edu	37	10	104173754	104173754	+	Missense_Mutation	SNP	A	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:104173754A>C	uc001kvg.1	-	4	1852	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	PSD_uc001kvh.1_Missense_Mutation_p.F63C|PSD_uc009xxd.1_Missense_Mutation_p.F442C	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	442	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCAGCTCAAAGGTGAAGAA	0.652000														109			10		0	0	0.008291	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									66			41		0	0	0.006230	0	0
MUC1	4582	broad.mit.edu	37	1	155160204	155160204	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:155160204C>T	uc021pap.1	-	5	1174	c.1102G>A	c.(1102-1104)Gtc>Atc	p.V368I	MUC1_uc001fhz.3_Missense_Mutation_p.V64I|MUC1_uc001fhy.3_Missense_Mutation_p.V64I|MUC1_uc010pfb.2_Missense_Mutation_p.V64I|MUC1_uc010pfh.2_Missense_Mutation_p.V210I|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Missense_Mutation_p.V210I|MUC1_uc010pfj.2_Missense_Mutation_p.V234I|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_Missense_Mutation_p.V64I|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_Missense_Mutation_p.V64I|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Missense_Mutation_p.V64I|MUC1_uc001fiq.3_Missense_Mutation_p.V64I|MUC1_uc009wqa.3_Missense_Mutation_p.V222I|MUC1_uc010pfn.2_Missense_Mutation_p.V139I|MUC1_uc009wpn.3_Missense_Mutation_p.V148I|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Missense_Mutation_p.V148I|MUC1_uc009wqc.3_Missense_Mutation_p.V136I|MUC1_uc009wqd.3_Missense_Mutation_p.V160I|MUC1_uc001fia.3_Missense_Mutation_p.V139I|MUC1_uc009wqb.3_Missense_Mutation_p.V64I|MUC1_uc009wpx.3_Missense_Mutation_p.V123I|MUC1_uc010pfq.2_Missense_Mutation_p.V136I|MUC1_uc001fid.3_Missense_Mutation_p.V114I|MUC1_uc001fit.3_Missense_Mutation_p.V64I|MUC1_uc009wpz.3_Missense_Mutation_p.V166I|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Missense_Mutation_p.V157I|MUC1_uc009wpo.3_Missense_Mutation_p.V101I|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Missense_Mutation_p.V157I|MUC1_uc009wpk.3_Missense_Mutation_p.V86I|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.V359I|MUC1_uc009wqg.3_Missense_Mutation_p.V95I|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Missense_Mutation_p.V113I|MUC1_uc009wps.3_Missense_Mutation_p.V122I|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Missense_Mutation_p.V125I|MUC1_uc009wpq.3_Missense_Mutation_p.V127I|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	1139	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCGCTGACGTCTGAGATC	0.577000			T	IGH@	B-NHL									58			6		0	0	0.003080	0	0
OR1S1	219959	broad.mit.edu	37	11	57982589	57982589	+	Missense_Mutation	SNP	A	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:57982589A>T	uc010rkc.2	+	0	373	c.373A>T	c.(373-375)Aat>Tat	p.N125Y		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CGTCATTGACAATTTGCTCTT	0.453000														246			171		0	0	0.003610	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597607	136597607	+	Missense_Mutation	SNP	C	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:136597607C>A	uc003qgx.1	-	4	1309	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	BCLAF1_uc003qgy.1_Missense_Mutation_p.R350S|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R350S|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	352					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGGTATTACCCCTATCAAGCA	0.443000														523			9		0.000673444	0.000778923	0.008291	1	0
ZDHHC11	79844	broad.mit.edu	37	5	850710	850710	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:850710G>A	uc011cma.1	-	0	392	c.8C>T	c.(7-9)aCc>aTc	p.T3I		NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	3						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCGGAGCGGGTGTCCATCTG	0.617000														142			5		0	0	0.000602	0	0
ZNF713	349075	broad.mit.edu	37	7	56006946	56006946	+	Silent	SNP	A	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:56006946A>C	uc003tra.2	+	6	1386	c.579A>C	c.(577-579)tcA>tcC	p.S193S	ZNF713_uc003trc.1_Silent_p.S180S	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGAACTCAAACCTTATGC	0.368000														136			32		0	0	0.002836	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000														67			5		0.000602214	0.000705031	0.000602	1	0
MYO3A	53904	broad.mit.edu	37	10	26243813	26243813	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:26243813A>G	uc001isn.2	+	3	539	c.179A>G	c.(178-180)gAa>gGa	p.E60G	MYO3A_uc009xko.1_Missense_Mutation_p.E60G|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.E60G|MYO3A_uc001ism.2_Missense_Mutation_p.E60G	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	60	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATATTGACGAAGAGATTGAA	0.318000														260			18		0	0	0.008871	0	0
SPTAN1	6709	broad.mit.edu	37	9	131337005	131337005	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:131337005C>T	uc004bvl.4	+	3	557	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPTAN1_uc011mbg.2_Nonsense_Mutation_p.R139*|SPTAN1_uc011mbh.2_Nonsense_Mutation_p.R151*|SPTAN1_uc004bvm.4_Nonsense_Mutation_p.R139*|SPTAN1_uc004bvn.4_Nonsense_Mutation_p.R139*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	139					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGAAGATGCGAGAAAAAGG	0.468000														80			47		0	0	0.003610	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	T	T	rs148273194	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:12885289G>T	uc001auk.2	-	3	1018	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	274								p.L274L(6)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000														404			6		3.07112e-06	3.68534e-06	0.000978	1	0
HEATR1	55127	broad.mit.edu	37	1	236724539	236724539	+	Silent	SNP	T	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:236724539T>C	uc001hyd.2	-	32	4784	c.4632A>G	c.(4630-4632)aaA>aaG	p.K1544K	HEATR1_uc009xgh.2_Silent_p.K706K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1544					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTCAAGGCCTTTTAAAATCT	0.323000														210			3		0	0	0.000248	0	0
AMY2B	280	broad.mit.edu	37	1	104115689	104115689	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:104115689G>A	uc010ouo.2	+	14	2024	c.320G>A	c.(319-321)cGt>cAt	p.R107H	AMY2B_uc001duq.3_Missense_Mutation_p.R107H|AMY2B_uc001dur.3_Missense_Mutation_p.R107H|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	107					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTCTAGGTTCGTATTTATGTG	0.368000														782			144		0	0	0.003610	0	0
RMI1	80010	broad.mit.edu	37	9	86616940	86616940	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:86616940C>G	uc022bjb.1	+	0	1039	c.1039C>G	c.(1039-1041)Cga>Gga	p.R347G	RMI1_uc004anq.4_Missense_Mutation_p.R347G|RMI1_uc004anr.4_Missense_Mutation_p.R347G|RMI1_uc004anp.4_Missense_Mutation_p.R347G|RMI1_uc004ans.4_Missense_Mutation_p.R347G	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	347					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATGCCGATCGAAGTATAGA	0.343000														100			16		0	0	0.003163	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	G	G	rs144273946	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr3:197348674A>G	uc011bug.2	-	3		c.417T>C			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		GGCTCTGTCCACCAAATGCAC	0.478000														197			3		0	0	0.004672	0	0
C12orf65	91574	broad.mit.edu	37	12	123741402	123741402	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:123741402C>T	uc001uen.3	+	2	588	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	C12orf65_uc001ueo.3_Non-coding_Transcript|C12orf65_uc021rft.1_Missense_Mutation_p.R109W|C12orf65_uc010tan.2_Missense_Mutation_p.R109W	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	Homo sapiens chromosome 12 open reading frame 65 (C12orf65), transcript variant 1, mRNA.	109						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		AAAGCTAGCTCGGAAAATCCT	0.368000														100			6		0	0	0.001168	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138103	138103	+	RNA	SNP	T	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrGL000195.1:138103T>C	uc003won.1	+	0		c.137T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGGGGACGCATAGTTAAGGTG	0.597000														8			3		0	0	0.004672	0	0
UNC45B	146862	broad.mit.edu	37	17	33482401	33482401	+	Silent	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:33482401C>T	uc002hja.3	+	6	823	c.726C>T	c.(724-726)tgC>tgT	p.C242C	UNC45B_uc002hjb.3_Silent_p.C242C|UNC45B_uc002hjc.3_Silent_p.C242C|UNC45B_uc010cto.3_Silent_p.C242C	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	242					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCTGTCTGCAACCTGCTCC	0.552000														200			23		0	0	0.002780	0	0
NTSR2	23620	broad.mit.edu	37	2	11798782	11798782	+	Silent	SNP	A	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:11798782A>T	uc002rbq.4	-	3	1130	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	352					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGAGTCACAGCTGAGCTGA	0.532000														174			4		0	0	0.000602	0	0
COL1A2	1278	broad.mit.edu	37	7	94033881	94033881	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94033881C>T	uc003ung.1	+	6	764	c.293C>T	c.(292-294)cCt>cTt	p.P98L	COL1A2_uc011kib.1_Missense_Mutation_p.P98L|COL1A2_uc022ahm.1_5'Flank|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	98					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTAATGGGACCTAGAGGCCCA	0.443000										HNSCC(75;0.22)				163			4		0	0	0.000248	0	0
COL27A1	85301	broad.mit.edu	37	9	116931516	116931516	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116931516A>G	uc011lxl.2	+	2	1681	c.1681A>G	c.(1681-1683)Aag>Gag	p.K561E	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.K411E	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	561	Pro-rich.				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						CAGACCTGGGAAGGCAGCCAG	0.642000														242			9		0	0	0.004482	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758650	62758650	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:62758650A>G	uc011kdj.2	-	1	228	c.160T>C	c.(160-162)Tcc>Ccc	p.S54P						Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA.																		TCACCCAGGGAGACCAAGTTT	0.358000														166			5		0	0	0.001168	0	0
EPRS	2058	broad.mit.edu	37	1	220195728	220195728	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:220195728C>T	uc001hly.1	-	8	1346	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.C110Y|EPRS_uc001hlz.1_Missense_Mutation_p.C359Y|EPRS_uc009xdt.1_Missense_Mutation_p.C160Y	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	359	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding	p.R358H(2)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTGAATTTTGCAGCGATAAAG	0.378000														406			7		0	0	0.001984	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43925953	43925953	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:43925953T>C	uc010skx.2	-	2	499	c.499A>G	c.(499-501)Ata>Gta	p.I167V		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	167						proteinaceous extracellular matrix	zinc ion binding	p.P166R(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCTTCATTATAGGTTCTAAG	0.343000														147			12		0	0	0.001368	0	0
KCNC3	3748	broad.mit.edu	37	19	50826645	50826645	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:50826645A>G	uc002pru.1	-	1	1860	c.1565T>C	c.(1564-1566)cTg>cCg	p.L522P	KCNC3_uc002prt.1_Missense_Mutation_p.L158P	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	522					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CAGGGCACACAGCGCCCCGAC	0.602000														74			3		0	0	0.004672	0	0
FMOD	2331	broad.mit.edu	37	1	203316988	203316988	+	Silent	SNP	G	A	A	rs141206727		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:203316988G>A	uc001gzr.3	-	1	547	c.411C>T	c.(409-411)caC>caT	p.H137H		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	137					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557000														170			5		0	0	0.001168	0	0
TRIM56	81844	broad.mit.edu	37	7	100732260	100732260	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:100732260C>T	uc003uxq.3	+	2	1898	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.A556V	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	556					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.V555L(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAGCGTGGCCGCCCTGCAG	0.672000														185			5		0	0	0.000602	0	0
KANK4	163782	broad.mit.edu	37	1	62739569	62739569	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:62739569C>T	uc001dah.4	-	2	1584	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	403										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGTCTTTGGCGTTCTCTTGG	0.517000														325			5		0	0	0.001168	0	0
SIRPD	128646	broad.mit.edu	37	20	1517834	1517834	+	Missense_Mutation	SNP	G	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:1517834G>T	uc002wfi.3	-	2	588	c.544C>A	c.(544-546)Ccc>Acc	p.P182T		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	182						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGCAGCAGGGTTGGACGAAA	0.607000														139			43		3.77016e-25	4.70046e-25	0.003214	1	0
RHAG	6005	broad.mit.edu	37	6	49604490	49604490	+	Silent	SNP	C	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:49604490C>A	uc003ozk.4	-	0	98	c.36G>T	c.(34-36)ctG>ctT	p.L12L	RHAG_uc010jzl.3_Silent_p.L12L|RHAG_uc010jzm.3_Silent_p.L12L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	12					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGGCAATTTCCAGGACTATAG	0.443000														140			61		2.5401e-28	3.20854e-28	0.003610	1	0
AIM2	9447	broad.mit.edu	37	1	159035847	159035847	+	Silent	SNP	G	A	A	rs148686373		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:159035847G>A	uc001ftj.1	-	3	914	c.669C>T	c.(667-669)agC>agT	p.S223S		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	223	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CACGTGAGGCGCTATTTACCT	0.368000														311			32		0	0	0.002096	0	0
MGAT4A	11320	broad.mit.edu	37	2	99279632	99279632	+	Silent	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:99279632G>A	uc002sze.3	-	4	728	c.414C>T	c.(412-414)gtC>gtT	p.V138V	MGAT4A_uc010yvm.2_Silent_p.V10V|MGAT4A_uc010fil.3_5'UTR|MGAT4A_uc010fim.1_Silent_p.V10V	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	138					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GAATGCCCATGACTATTGAAA	0.323000														469			6		0	0	0.001168	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	A	A	rs150688663	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53856702G>A	uc010ydv.1	+	3	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_uc010ydw.1_Missense_Mutation_p.R925H	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000														40			3		0	0	0.004672	0	0
PTPRR	5801	broad.mit.edu	37	12	71286466	71286466	+	Missense_Mutation	SNP	A	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:71286466A>G	uc001swi.2	-	1	764	c.350T>C	c.(349-351)aTt>aCt	p.I117T		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	117					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACCACCACAATTACATTTGC	0.413000														246			4		0	0	0.000248	0	0
REV3L	5980	broad.mit.edu	37	6	111726682	111726682	+	Silent	SNP	T	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:111726682T>G	uc003puy.4	-	3	897	c.556A>C	c.(556-558)Aga>Cga	p.R186R	REV3L_uc003pux.4_Silent_p.R108R|REV3L_uc003puz.4_Silent_p.R108R	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	186					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTTCCTTCTTGCTTTTCGG	0.299000								DNA polymerases (catalytic subunits)						203			7		0	0	0.001984	0	0
DNMT3B	1789	broad.mit.edu	37	20	31372610	31372610	+	Missense_Mutation	SNP	C	G	G	rs138276579		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:31372610C>G	uc002wyc.3	+	3	572	c.251C>G	c.(250-252)aCc>aGc	p.T84S	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.T84S|DNMT3B_uc002wye.3_Missense_Mutation_p.T84S|DNMT3B_uc010ztz.2_Missense_Mutation_p.T84S|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.T96S	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	84	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTCTGACACCCCAGTCATG	0.527000														143			3		0	0	0.004672	0	0
ATRX	546	broad.mit.edu	37	X	76890086	76890086	+	Splice_Site	SNP	T	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:76890086T>C	uc004ecp.4	-	17	5041	c.4809_splice	c.e17+1	p.Q1603_splice	ATRX_uc004ecq.4_Splice_Site_p.Q1565_splice|ATRX_uc004eco.4_Splice_Site_p.Q1388_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1603	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGCTCTTACCTGTAAAGTCTT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							23			82		0	0	0.003610	0	0
MCCC2	64087	broad.mit.edu	37	5	70944989	70944989	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:70944989G>A	uc003kbs.4	+	13	1420	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512000														152			5		0	0	0.000602	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53856730G>A	uc010ydv.1	+	3	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_uc010ydw.1_Silent_p.K934K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000														43			3		0	0	0.004672	0	0
TRPM6	140803	broad.mit.edu	37	9	77435280	77435280	+	Silent	SNP	A	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:77435280A>G	uc004ajl.1	-	8	1312	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	TRPM6_uc004ajk.1_Silent_p.S353S|TRPM6_uc022bib.1_Silent_p.S353S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.S358S|TRPM6_uc010mpd.1_Silent_p.S358S|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	358					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTGTTTAAGACTAAAGTTGA	0.413000														108			35		0	0	0.008740	0	0
ZNF99	7652	broad.mit.edu	37	19	22941101	22941101	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:22941101T>C	uc021urt.1	-	3	1765	c.1610A>G	c.(1609-1611)tAc>tGc	p.Y537C		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGTAGGGTTTCTT	0.343000														275			5		0	0	0.001984	0	0
SBF2	81846	broad.mit.edu	37	11	9864268	9864268	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:9864268T>C	uc001mib.2	-	24	3298	c.3160A>G	c.(3160-3162)Aca>Gca	p.T1054A	SBF2_uc001mif.3_Missense_Mutation_p.T810A|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1054					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGCCCAATTGTCATTTTCCCT	0.373000														111			4		0	0	0.000602	0	0
NEB	4703	broad.mit.edu	37	2	152342397	152342397	+	Silent	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:152342397C>T	uc021vrb.1	-	147	19916	c.19887G>A	c.(19885-19887)gtG>gtA	p.V6629V	NEB_uc002txr.3_Silent_p.V3002V|NEB_uc002txu.3_Silent_p.V8485V|NEB_uc021vrc.1_Silent_p.V8485V|NEB_uc010fnx.3_Silent_p.V6617V|NEB_uc021vrd.1_Silent_p.V6629V|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Silent_p.V398V|NEB_uc002txq.3_Silent_p.V508V|NEB_uc010zca.2_Silent_p.V460V|NEB_uc010zcb.2_Silent_p.V398V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6629	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGAAGGACACCTCATCTG	0.458000														130			67		0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:7578271T>C	uc002gim.2	-	5	772	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.3_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.2_Missense_Mutation_p.H154R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(152)|p.H193L(77)|p.Q192*(71)|p.H193P(32)|p.H193Y(27)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.H193fs*16(6)|p.?(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.Q192H(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.H193H(2)|p.Q192Q(2)|p.Q192K(2)|p.H61P(2)|p.H100P(2)|p.H193_I195>AP(2)|p.A189fs*53(1)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.Q192del(1)|p.Q192fs*56(1)|p.Q192fs*16(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				12			74		0	0	0.003610	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904728	180904728	+	Silent	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:180904728G>A	uc001gok.2	+	4	1750	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	KIAA1614_uc001gol.1_Silent_p.Q182Q|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	561										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACCCTCCAGGAGCTCCAGG	0.726000														32			3		0	0	0.004672	0	0
ALPK1	80216	broad.mit.edu	37	4	113362097	113362097	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:113362097G>A	uc003ian.4	+	14	3790	c.3563G>A	c.(3562-3564)gGa>gAa	p.G1188E	ALPK1_uc003iap.4_Missense_Mutation_p.G1188E|ALPK1_uc011cfx.2_Missense_Mutation_p.G1110E|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.G1016E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1188	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATGGAAAAGGACTCATCTAC	0.363000														269			5		0	0	0.000602	0	0
RNASEL	6041	broad.mit.edu	37	1	182554707	182554707	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:182554707C>T	uc009wxz.2	-	1	1492	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	RNASEL_uc001gpk.3_Missense_Mutation_p.R412Q|RNASEL_uc009wya.1_Missense_Mutation_p.R412Q	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	412	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ACTGTTCTCTCGGCTGCTTTG	0.532000														175			14		0	0	0.004007	0	0
OAF	220323	broad.mit.edu	37	11	120097624	120097624	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:120097624C>G	uc001pxb.3	+	2	707	c.466C>G	c.(466-468)Ccc>Gcc	p.P156A		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	156										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGCTGAGCCCCCATCTCCA	0.642000														75			54		0	0	0.003610	0	0
ZNF618	114991	broad.mit.edu	37	9	116811471	116811471	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116811471G>A	uc004bid.3	+	14	1988	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	ZNF618_uc004bic.3_Missense_Mutation_p.G537D|ZNF618_uc011lxi.2_Missense_Mutation_p.G597D|ZNF618_uc011lxj.2_Missense_Mutation_p.G598D|ZNF618_uc010mvb.3_Missense_Mutation_p.G220D	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TCCAAGGCCGGCATGTGCCTT	0.622000														223			4		0	0	0.000602	0	0
CACNA1B	774	broad.mit.edu	37	9	140850187	140850187	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:140850187C>T	uc004cog.3	+	7	1253	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CACNA1B_uc022bqn.1_Missense_Mutation_p.R370C|CACNA1B_uc011mfd.2_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	370					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGAGAACCGCCGCGCCTTCCT	0.642000														17			10		0	0	0.008291	0	0
PTPN18	26469	broad.mit.edu	37	2	131116491	131116491	+	Missense_Mutation	SNP	G	A	A	rs11892325	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:131116491G>A	uc002trc.3	+	1	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_uc002trb.3_Intron	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	49	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627000														136			56		0	0	0.003610	0	0
RTDR1	27156	broad.mit.edu	37	22	23401832	23401832	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr22:23401832C>T	uc002zwt.3	-	6	1013	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	285							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCGCTATGGTCATGGGGGAGT	0.657000														190			59		0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21678576	21678576	+	Missense_Mutation	SNP	G	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:21678576G>T	uc003svc.3	+	27	4883	c.4852G>T	c.(4852-4854)Gct>Tct	p.A1618S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1618	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGTGAAAAAGCTCTCGCTGA	0.403000									Kartagener syndrome					157			67		9.12251e-31	1.16768e-30	0.003610	1	0
C2orf62	375307	broad.mit.edu	37	2	219232561	219232561	+	Silent	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:219232561C>T	uc002vhr.3	+	9	1067	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	BC038211_uc002vht.3_5'Flank	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	346										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTCACCTTCGCCGCCGAGT	0.701000														53			6		0	0	0.001168	0	0
GAS2	2620	broad.mit.edu	37	11	22747932	22747932	+	Missense_Mutation	SNP	G	A	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:22747932G>A	uc009yie.3	+	3	668	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	GAS2_uc001mqm.3_Missense_Mutation_p.R121Q|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.R121Q	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	121	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCCTGGTGCCGAGATTTAGGG	0.398000														138			15		0	0	0.002450	0	0
CCNG2	901	broad.mit.edu	37	4	78081991	78081991	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:78081991A>T	uc003hkq.4	+	3	697	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	CCNG2_uc003hkn.4_Nonsense_Mutation_p.K132*|CCNG2_uc011ccc.1_Nonsense_Mutation_p.K132*|CCNG2_uc003hkp.4_Nonsense_Mutation_p.K132*	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	Homo sapiens cyclin G2 (CCNG2), mRNA.	132					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGTCAGTGTAAATGTACTGC	0.363000														148			92		0	0	0.003610	0	0
TET2	54790	broad.mit.edu	37	4	106156834	106156834	+	Missense_Mutation	SNP	C	G	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:106156834C>G	uc011cez.2	+	2	2203	c.1798C>G	c.(1798-1800)Cta>Gta	p.L600V	TET2_uc003hxk.3_Missense_Mutation_p.L579V|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.L579V|TET2_uc010ilp.2_Missense_Mutation_p.L579V|TET2_uc021xql.1_Missense_Mutation_p.L579V	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	579	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.M600fs*39(1)|p.Q599fs*1(1)|p.L590_H650del(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAATCCCATCTAAAACGTAA	0.453000			"""Mis N, F"""		MDS									152			5		0	0	0.000602	0	0
C1orf168	199920	broad.mit.edu	37	1	57258301	57258301	+	Missense_Mutation	SNP	C	T	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:57258301C>T	uc001cym.4	-	1	591	c.185G>A	c.(184-186)cGc>cAc	p.R62H	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.R62H	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	62										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTATGGTGTGCGCTGCTTGTG	0.473000														322			15		0	0	0.003163	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	-	-			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:700532delT	uc001abo.3	-	6		c.1084delA								Homo sapiens general transcription factor IIi pseudogene (LOC100288069), non-coding RNA.																		aaaaaaaaaaTTCCTTTGGGA	0.453													---	6	---	---	4	---					
TOB2P1	222699	broad.mit.edu	37	6	28185337	28185339	+	RNA	DEL	TTT	-	-			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:28185337_28185339delTTT	uc011dla.1	-	0		c.1369_1371delAAA								Homo sapiens transducer of ERBB2, 2 pseudogene 1 (TOB2P1), non-coding RNA.											endometrium(1)	1						ccttttcctcttttttttttttt	0.443													---	5	---	---	4	---					
SLC8A3	6547	broad.mit.edu	37	14	70633381	70633382	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr14:70633381_70633382insC	uc001xly.3	-	1	2512_2513	c.1758_1759insG	c.(1756-1761)gagttgfs	p.E586fs	SLC8A3_uc001xlw.3_Frame_Shift_Ins_p.E586fs|SLC8A3_uc001xlx.3_Frame_Shift_Ins_p.E586fs|SLC8A3_uc001xlz.3_Frame_Shift_Ins_p.E586fs|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	586	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGAATTCCAACTCCCCATATG	0.505													---	120	---	---	14	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	-	-	rs63544660		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:278688_278690delCGG	uc002wdf.3	+	0	485_487	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA.	159	Poly-Ala.						nucleic acid binding|zinc ion binding	p.A159delA(6)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													---	7	---	---	4	---					
