Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	by1000genomes	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr19:52149092C>T	uc002pxf.4	-	2	763	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	215	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.V215M(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647000													5	278					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975113	31975113	+	Missense_Mutation	SNP	G	G	C	rs62402680	by1000genomes	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:31975113G>C	uc021yve.1	+	4	1290	c.728G>C	c.(727-729)aGc>aCc	p.S243T				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	239							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GCGCAGCCGAGCATGGAAGAG	0.627000													5	196					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975054	31975054	+	Silent	SNP	G	G	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:31975054G>C	uc021yve.1	+	4	1231	c.669G>C	c.(667-669)ctG>ctC	p.L223L				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	219							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										AGGAGAGCCTGGTGGCAGGCC	0.617000													5	185					0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68117524	68117524	+	Missense_Mutation	SNP	G	G	T	rs148319106	byFrequency	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr14:68117524G>T	uc001xjs.3	+	7	1068	c.952G>T	c.(952-954)Gtg>Ttg	p.V318L		NM_001172	NP_001163	P78540	ARGI2_HUMAN	Homo sapiens arginase, type II (ARG2), nuclear gene encoding mitochondrial protein, mRNA.	318					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	GGCAGTAGATGTGATTGCTTC	0.473000													3	123					0.00909568	0.00977446	1	1	0
UBA6	55236	broad.mit.edu	37	4	68534339	68534339	+	Silent	SNP	T	T	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr4:68534339T>C	uc003hdg.4	-	8	775	c.723A>G	c.(721-723)acA>acG	p.T241T	UBA6_uc003hdi.3_Silent_p.T241T|UBA6_uc003hdj.2_Silent_p.T241T	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	241					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GGAATTGTCCTGTCTCCAGTT	0.303000													3	64					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52877551	52877551	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr19:52877551G>A	uc002pzc.3	+	3	189	c.140_splice	c.e3-1	p.G47_splice	ZNF880_uc002pzb.4_Splice_Site|ZNF880_uc021uyu.1_Splice_Site_p.G47_splice	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	47	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TTTTTAAATAGGAATCTGTCT	0.403000													5	56					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75673982	75673982	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr15:75673982T>A	uc002bai.3	-	17	3519	c.3260A>T	c.(3259-3261)gAg>gTg	p.E1087V	SIN3A_uc002baj.3_Missense_Mutation_p.E1087V|SIN3A_uc010uml.2_Missense_Mutation_p.E1087V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1087					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATCCGAATTCTCCTCTTCTGT	0.502000													55	71					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132834320	132834320	+	Silent	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr12:132834320G>A	uc001ukc.4	-	4	983	c.867C>T	c.(865-867)aaC>aaT	p.N289N	GALNT9_uc009zyr.3_5'UTR|GALNT9_uc001ukb.3_Silent_p.N146N|GALNT9_uc009zys.3_Silent_p.N289N	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	289					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CATGGGCGGCGTTCGCATACT	0.632000													11	33					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306024	306024	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr12:306024A>G	uc001qhz.3	-	11	1764	c.1100T>C	c.(1099-1101)tTc>tCc	p.F367S	SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Missense_Mutation_p.F367S|SLC6A12_uc001qib.3_Missense_Mutation_p.F367S|SLC6A12_uc009zdh.2_Missense_Mutation_p.F367S	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	367					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGCCTTGGGGAAGGCGATGAA	0.587000													20	47					0	0	1	0	0
HAGHL	84264	broad.mit.edu	37	16	778934	778934	+	Silent	SNP	G	G	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr16:778934G>C	uc002cjl.1	+	6	920	c.639G>C	c.(637-639)ggG>ggC	p.G213G	CCDC78_uc002cjg.3_5'Flank|CCDC78_uc002cjh.3_5'Flank|CCDC78_uc002cji.3_5'Flank|CCDC78_uc002cjj.3_5'Flank|CCDC78_uc010uuo.1_5'Flank|CCDC78_uc002cjk.2_5'Flank|HAGHL_uc002cjn.1_3'UTR|HAGHL_uc002cjo.1_Intron|HAGHL_uc010uup.1_Intron			Q6PII5	HAGHL_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase-like (HAGHL), transcript variant 2, mRNA.	213							hydrolase activity|metal ion binding			lung(3)	3		Hepatocellular(780;0.00335)				GGGTGGGGGGGGAGGGAACAG	0.652000													8	2					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140434	56140434	+	Silent	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr20:56140434C>T	uc002xyn.4	+	9	1606	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	PCK1_uc010zzm.2_Silent_p.A164A	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	481					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACCCCTTTGCCATGCGGCCCT	0.507000													4	82					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114044	53114044	+	Silent	SNP	C	C	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chrX:53114044C>A	uc004drw.3	+	2	1132	c.993C>A	c.(991-993)cgC>cgA	p.R331R	TSPYL2_uc004drv.3_Silent_p.R375R|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	331					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGCGCAACCGCTCAGGTAAGT	0.498000													44	4					1.83081e-24	2.39669e-24	1	1	0
PGAP1	80055	broad.mit.edu	37	2	197750195	197750195	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:197750195G>T	uc002utw.3	-	11	1339	c.1225C>A	c.(1225-1227)Caa>Aaa	p.Q409K	PGAP1_uc002utx.3_Missense_Mutation_p.Q235K|PGAP1_uc002uty.1_Missense_Mutation_p.Q409K|PGAP1_uc010zgv.1_Non-coding_Transcript	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	409					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCAACCCCTTGCAGGCTTTGA	0.284000													3	46					1	1	1	1	0
FRY	10129	broad.mit.edu	37	13	32823745	32823745	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr13:32823745G>T	uc001utx.3	+	48	7587	c.7091G>T	c.(7090-7092)cGg>cTg	p.R2364L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCCGTCACCCGGAGCACATCT	0.542000													3	56					0.150653	0.157204	1	1	0
PFKFB4	5210	broad.mit.edu	37	3	48576038	48576038	+	Silent	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr3:48576038G>T	uc003ctv.3	-	6	542	c.525C>A	c.(523-525)ggC>ggA	p.G175G	PFKFB4_uc003ctx.3_Silent_p.G132G|PFKFB4_uc010hkb.3_Silent_p.G175G|PFKFB4_uc003ctw.3_5'UTR|PFKFB4_uc010hkc.3_Silent_p.G175G|PFKFB4_uc011bbm.2_Silent_p.G164G|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	175	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AGTCAGGGCTGCCCAGTTTCA	0.592000													6	74					1	1	1	1	0
FABP5P3	220832	broad.mit.edu	37	7	152139713	152139713	+	RNA	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr7:152139713G>T	uc003wlb.3	+	1		c.468G>T								Homo sapiens fatty acid binding protein 5 pseudogene 3 (FABP5P3), non-coding RNA.																		CTAGGAGTGGGAATAGCTTTG	0.473000													5	101					8.12818e-05	9.75382e-05	1	1	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	102226	102226	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chrGL000209.1:102226T>G	uc021vdb.1	+	2	172	c.161T>G	c.(160-162)aTg>aGg	p.M54R	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.M54R	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	54	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCAGATGTCATGTTTGAGCAC	0.522000													3	65					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1630052	1630052	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr17:1630052C>T	uc002ftj.2	+	0	1928	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	WDR81_uc002fth.2_Intron|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCTTGCCCCCGAGCCTCCC	0.657000													19	13					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400480	33400480	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:33400480C>T	uc011dri.2	+	4	601	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R121W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R121W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	136					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTGAGCCGACGGCTAAAAAG	0.577000													13	31					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873803	24873803	+	Silent	SNP	T	T	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr10:24873803T>C	uc001isb.2	-	25	5902	c.5415A>G	c.(5413-5415)ggA>ggG	p.G1805G	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1804	Interaction with CTNNA1.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTCTGTGCCCTCCTAGTGTAT	0.488000													29	50					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	142					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63119731	63119731	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr1:63119731A>G	uc001daq.3	-	2	278	c.244T>C	c.(244-246)Ttt>Ctt	p.F82L	DOCK7_uc001dan.3_5'Flank|DOCK7_uc001dao.3_5'Flank|DOCK7_uc001dap.3_Missense_Mutation_p.F82L|DOCK7_uc009wah.1_Missense_Mutation_p.F82L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	82					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCTGGAGGAAATTCAATCAAA	0.428000													24	40					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436376	19436376	+	Silent	SNP	C	C	T	rs139589208	byFrequency	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr12:19436376C>T	uc001reb.3	+	10	1566	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	PLEKHA5_uc010sie.2_Silent_p.P492P|PLEKHA5_uc001rea.3_Silent_p.P486P|PLEKHA5_uc009zin.3_Silent_p.P244P|PLEKHA5_uc010sig.2_Silent_p.P378P|PLEKHA5_uc010sih.1_Silent_p.P378P|PLEKHA5_uc021qvy.1_Silent_p.P378P|PLEKHA5_uc001rec.1_Silent_p.P174P	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	486							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CATTAGGACCCGGAGCGGAGG	0.502000													4	117					0	0	1	0	0
HMGN3	9324	broad.mit.edu	37	6	79918284	79918284	+	Silent	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:79918284G>T	uc021zbz.1	-	2	254	c.76C>A	c.(76-78)Cgg>Agg	p.R26R	HMGN3_uc003pit.3_Silent_p.R26R|HMGN3_uc003pis.3_Silent_p.R26R|HMGN3_uc003piu.2_Silent_p.R26R	NM_001201363	NP_001188292	Q15651	HMGN3_HUMAN	Homo sapiens high mobility group nucleosomal binding domain 3 (HMGN3), transcript variant 4, mRNA.	26					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding	p.R26L(1)		central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		CTGGCAGACCGTCTTGTGGGC	0.353000													3	167					0.184627	0.189902	1	1	0
AAK1	22848	broad.mit.edu	37	2	69746142	69746142	+	Missense_Mutation	SNP	C	C	G	rs76509206	by1000genomes	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:69746142C>G	uc002sfp.2	-	11	1946	c.1441G>C	c.(1441-1443)Gca>Cca	p.A481P	AAK1_uc010fdk.2_Missense_Mutation_p.A481P|AAK1_uc010yqm.1_Missense_Mutation_p.A481P	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	481	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						tgctgctgtgctggcggtggc	0.617000													5	113					0	0	1	0	0
C1orf167	284498	broad.mit.edu	37	1	11839966	11839966	+	Missense_Mutation	SNP	G	G	A	rs4846043	by1000genomes	TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr1:11839966G>A	uc001asz.3	+	5	949	c.662G>A	c.(661-663)cGt>cAt	p.R221H	C1orf167_uc001ata.3_5'UTR					RecName: Full=Uncharacterized protein C1orf167;											central_nervous_system(1)	1						GGCCTGTGGCGTCAGCGGCTG	0.697000													3	11					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85680745	85680745	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr12:85680745G>A	uc001tae.4	+	2	650	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	216					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCAAGGACTGACAGCTACCC	0.378000													3	45					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1281625	1281625	+	Splice_Site	SNP	T	T	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:1281625T>G	uc001lta.3	+	47	17025	c.16966_splice	c.e47+2	p.D5656_splice		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5656	CTCK.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGAGGAGGGTAAGTGGAAGC	0.667000													5	68					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079878	31079878	+	Silent	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:31079878G>T	uc003nsk.1	-	1	258	c.258C>A	c.(256-258)ggC>ggA	p.G86G	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	86										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAGGTGGGAAGCCATCTGATG	0.607000													7	91					0.00198382	0.00219746	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174500	150174500	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr7:150174500G>T	uc003whj.3	+	4	1960	c.1630G>T	c.(1630-1632)Gct>Tct	p.A544S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	544						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGACAAAACAGCTGTGGCGAA	0.502000													6	76					0.0215528	0.0228206	1	1	0
RRP9	9136	broad.mit.edu	37	3	51968675	51968675	+	Silent	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr3:51968675G>A	uc003dbw.1	-	11	1191	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	384					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	p.A383T(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TGTTGAGGAGGGCTGCCACCG	0.662000													3	77					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195490958	195490958	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr3:195490958G>A	uc021xjp.1	-	10	14158	c.14002C>T	c.(14002-14004)Cgg>Tgg	p.R4668W	MUC4_uc003fuz.3_Missense_Mutation_p.R266W|MUC4_uc003fva.3_Missense_Mutation_p.R148W|MUC4_uc003fvb.3_Missense_Mutation_p.R184W|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.R184W|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Missense_Mutation_p.R177W|MUC4_uc021xjn.1_Missense_Mutation_p.R357W|MUC4_uc021xjo.1_Missense_Mutation_p.R148W|MUC4_uc021xjg.1_Missense_Mutation_p.R148W|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.R232W|MUC4_uc021xjj.1_Missense_Mutation_p.R232W|MUC4_uc021xjk.1_Missense_Mutation_p.R409W|MUC4_uc021xjl.1_Missense_Mutation_p.R148W|MUC4_uc003fvo.3_Missense_Mutation_p.R432W|MUC4_uc003fvp.3_Missense_Mutation_p.R381W	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1425					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGTGGGGCCGCCTCTGCTGG	0.662000													7	152					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085479	17085479	+	Silent	SNP	T	T	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr1:17085479T>C	uc010ock.2	-	9	1212	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GTCTCAACCATTTCCAGGCTC	0.617000													4	113					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702650	46702650	+	Silent	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:46702650G>A	uc001ndd.3	-	6	615	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	182	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCTTCTGCCCGAACTTGAAGC	0.602000													5	38					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61775123	61775123	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr8:61775123C>T	uc003xue.3	+	36	8480	c.7988C>T	c.(7987-7989)gCg>gTg	p.A2663V	CHD7_uc022aux.1_Missense_Mutation_p.A614V	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2663					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGCTATGGCGCCTCCAATG	0.448000													3	50					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27332981	27332981	+	Silent	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr13:27332981C>T	uc021rhk.1	-	0	984	c.984G>A	c.(982-984)gcG>gcA	p.A328A	GPR12_uc010aal.3_Silent_p.A328A|GPR12_uc010tdl.2_Silent_p.A169A	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	328						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGGCGAGCGCGCTCTCTGGG	0.537000													43	52					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188925189	188925189	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr3:188925189A>G	uc003frv.2	+	6	1243	c.16A>G	c.(16-18)Agt>Ggt	p.S6G	TPRG1_uc003frw.2_Missense_Mutation_p.S6G	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	6										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AACAATTGGGAGTTTTGAAGG	0.458000													16	104					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296065	62296065	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:62296065C>T	uc001ntl.3	-	4	6124	c.5824G>A	c.(5824-5826)Gtg>Atg	p.V1942M	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1942					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCACCGACACATCCACATCC	0.502000													11	128					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133948708	133948708	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr9:133948708G>A	uc004caa.1	+	20	3592	c.3494_splice	c.e20+1	p.S1165_splice		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1165	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCGCCAGGAGGTGAGTCCCA	0.607000													6	7					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27856559	27856559	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr7:27856559A>T	uc003szl.3	+	14	2169	c.1987A>T	c.(1987-1989)Aga>Tga	p.R663*	TAX1BP1_uc011jzo.2_Nonsense_Mutation_p.R621*|TAX1BP1_uc003szk.3_Nonsense_Mutation_p.R621*|TAX1BP1_uc011jzp.2_Nonsense_Mutation_p.R464*	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	663					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GCCACCTGTCAGAGTCCCCTC	0.453000													39	24					0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45564665	45564665	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr14:45564665G>A	uc001wvz.4	+	1	393	c.223G>A	c.(223-225)Gca>Aca	p.A75T	PRPF39_uc001wvy.4_5'UTR|PRPF39_uc010and.3_5'UTR	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	75					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						AGAAACAGAAGCAAATTTCCC	0.403000													19	30					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158539426	158539426	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr3:158539426G>T	uc003fcl.2	+	9	1131	c.1051G>T	c.(1051-1053)Gca>Tca	p.A351S	MFSD1_uc011bow.2_Missense_Mutation_p.A312S|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_Missense_Mutation_p.A205S	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	302					transmembrane transport	integral to membrane		p.T351A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCCCAGGCAGCAAGTGCAAT	0.289000													3	72					0.00024832	0.000288372	1	1	0
R3HDM2	22864	broad.mit.edu	37	12	57648792	57648792	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr12:57648792A>C	uc009zpm.1	-	21	2730	c.2695T>G	c.(2695-2697)Tgg>Ggg	p.W899G	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Missense_Mutation_p.W594G|R3HDM2_uc001snr.2_Missense_Mutation_p.W626G|R3HDM2_uc001sns.2_Missense_Mutation_p.W899G|R3HDM2_uc001snt.2_Missense_Mutation_p.W913G	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	899						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCCTTGAGCCACTGGATCTTG	0.637000													3	69					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131515	150131515	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr1:150131515C>A	uc001ett.3	+	5	1305	c.1027C>A	c.(1027-1029)Ccg>Acg	p.P343T	PLEKHO1_uc001ets.3_Missense_Mutation_p.P160T|PLEKHO1_uc001etu.3_Missense_Mutation_p.P171T|PLEKHO1_uc021oyc.1_Missense_Mutation_p.P160T	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	343	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTCGGTCTCCGCCGGATTC	0.607000													13	89					2.5808e-16	3.25995e-16	1	1	0
GJA3	2700	broad.mit.edu	37	13	20717168	20717168	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr13:20717168G>A	uc001umx.1	-	1	432	c.260C>T	c.(259-261)aCg>aTg	p.T87M	GJA3_uc021rgz.1_Missense_Mutation_p.T87M	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	87					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GAGGGTGGGCGTGGACACGAA	0.612000													3	97					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47382353	47382353	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:47382353A>G	uc010yog.2	-	0	165	c.38T>C	c.(37-39)aTa>aCa	p.I13T	C2orf61_uc010fbd.3_Intron|C2orf61_uc002rvs.2_Missense_Mutation_p.I13T	NM_001163561	NP_001157033	Q8N801	CB061_HUMAN	Homo sapiens chromosome 2 open reading frame 61 (C2orf61), transcript variant 1, mRNA.	13								p.0?(2)|p.S12P(1)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTCTTCCCTTATTGAGGTGGA	0.632000													25	55					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847510	95847510	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:95847510C>G	uc002suf.3	+	4	1399	c.937C>G	c.(937-939)Cct>Gct	p.P313A	ZNF2_uc002sug.3_Missense_Mutation_p.P271A|ZNF2_uc010yue.2_Missense_Mutation_p.P275A|ZNF2_uc010fhs.3_Missense_Mutation_p.P233A	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGGCAGGAAGCCTTATGAGTG	0.468000													44	87					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445767	4445767	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr17:4445767G>T	uc002fxz.4	-	21	3141	c.3079C>A	c.(3079-3081)Cgt>Agt	p.R1027S	MYBBP1A_uc002fyb.4_Missense_Mutation_p.R1027S|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.R69S	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1027					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACCTGATGACGGGGCCGCACC	0.627000													39	79					8.20599e-20	1.05506e-19	1	1	0
PC	5091	broad.mit.edu	37	11	66636384	66636384	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr11:66636384T>C	uc001ojn.1	-	7	1004	c.955A>G	c.(955-957)Aag>Gag	p.K319E	PC_uc001ojo.1_Missense_Mutation_p.K319E|PC_uc001ojp.1_Missense_Mutation_p.K319E	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	319	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AAGTAGTGCTTGCCGTGCCTG	0.687000													46	91					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40588729	40588729	+	Silent	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr15:40588729C>T	uc001zld.3	-	14	1894	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S	PLCB2_uc010bbo.3_Silent_p.S527S|PLCB2_uc010ucm.2_Silent_p.S531S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	531	Glu-rich.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACACCTCATCCGACTGCATCT	0.602000													80	107					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161026202	161026202	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:161026202A>G	uc003qtl.3	-	18	2941	c.2821T>C	c.(2821-2823)Tac>Cac	p.Y941H		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3449	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTTCCGTGGTAGCACTCCTGC	0.458000													22	21					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220465972	220465972	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr2:220465972C>T	uc002vml.3	+	2	153	c.110C>T	c.(109-111)tCt>tTt	p.S37F	STK11IP_uc010zlj.2_Missense_Mutation_p.S26F|STK11IP_uc010zlk.2_Missense_Mutation_p.S26F|STK11IP_uc010zll.2_Missense_Mutation_p.S26F|STK11IP_uc002vmm.1_Missense_Mutation_p.S26F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	37					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGTCCTGTCTGGCTGTAGC	0.517000													5	77					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42994982	42994982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr6:42994982C>T	uc003otp.1	+	4	525	c.517C>T	c.(517-519)Cag>Tag	p.Q173*		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	173					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GCAACTGCTTCAGCGAATGGT	0.438000													3	55					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571977	43571977	+	Silent	SNP	C	C	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr15:43571977C>A	uc001zrf.1	-	9	1529	c.1524G>T	c.(1522-1524)ctG>ctT	p.L508L		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	508					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L508M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TACGCAGCAGCAGCTGCAGGT	0.657000													6	31					8.12818e-05	9.75382e-05	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156784757	156784757	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr4:156784757G>A	uc003ipe.1	-	1	237	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	64						integral to membrane|plasma membrane											ACCAACCAGAGCACCCTGCGA	0.483000													43	75					0	0	1	0	0
FA2H	79152	broad.mit.edu	37	16	74750468	74750468	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr16:74750468G>C	uc002fde.2	-	5	892	c.816C>G	c.(814-816)ttC>ttG	p.F272L	FA2H_uc002fdd.2_Missense_Mutation_p.F45L|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	272					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GCACAGGGGGGAAGACCAGGC	0.677000													15	22					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75673957	75673957	+	Silent	SNP	T	T	A			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr15:75673957T>A	uc002bai.3	-	17	3544	c.3285A>T	c.(3283-3285)gcA>gcT	p.A1095A	SIN3A_uc002baj.3_Silent_p.A1095A|SIN3A_uc010uml.2_Silent_p.A1095A	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1095					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCATACCTCTGCTTCCACAG	0.527000													58	71					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39600511	39600511	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr13:39600511C>T	uc001uwy.3	-	5	1256	c.383G>A	c.(382-384)gGc>gAc	p.G128D	PROSER1_uc001uwz.3_Missense_Mutation_p.G106D	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	128																	AGCTTTGCAGCCCCCCTTGAA	0.393000													4	7					0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55631503	55631503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chr15:55631503delT	uc002act.3	+	6	1149	c.833delT	c.(832-834)attfs	p.I278fs	PIGB_uc010ugg.2_Frame_Shift_Del_p.I83fs	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	278					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATTGATCGTATTTTTTTTGGC	0.284													7	89	---	---	---	---					
AR	367	broad.mit.edu	37	X	66765159	66765161	+	In_Frame_Del	DEL	GCA	GCA	-	rs72181988		TCGA-B1-A47N-01A-11D-A25F-10	TCGA-B1-A47N-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2cc59d-f5ce-46ed-beb0-4c80b24cbe71	2041c373-06a2-4ba8-b9f8-3c11c313e0db	g.chrX:66765159_66765161delGCA	uc004dwu.2	+	0	1286_1288	c.171_173delGCA	c.(169-174)ctgcag>ctg	p.Q80del	AR_uc011mpd.2_In_Frame_Del_p.Q80del|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_In_Frame_Del_p.Q80del|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_In_Frame_Del_p.Q80del	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	78	Gln-rich.|Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcag	0.665									Androgen Insensitivity Syndrome				5	4	---	---	---	---					
