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
TTC3	7267	broad.mit.edu	37	21	38555196	38555196	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:38555196G>C	uc002yvz.3	+	35	4843	c.4738G>C	c.(4738-4740)Gtt>Ctt	p.V1580L	TTC3_uc002ywa.3_Missense_Mutation_p.V1580L|TTC3_uc002ywb.3_Missense_Mutation_p.V1580L|TTC3_uc010gnf.3_Missense_Mutation_p.V1345L|TTC3_uc002ywc.3_Missense_Mutation_p.V1270L|TTC3_uc002ywd.1_Missense_Mutation_p.V644L	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1580					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AATTAAAAAGGTTTCAAATGC	0.259000														19			8		0	0	0.006214	0	0
PI16	221476	broad.mit.edu	37	6	36929689	36929690	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:36929689_36929690CC>TT	uc021yzd.1	+	4	754_755	c.531_532CC>TT	c.(529-534)taccag>taTTag	p.Q178*	PI16_uc003omz.1_Nonsense_Mutation_p.Q178*|PI16_uc003ona.3_Nonsense_Mutation_p.Q178*|PI16_uc011dts.1_5'UTR	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	178						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACGGCCCTACCAGGAGGGGAC	0.634000														74			12		0	0	0.004672	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555774	101555774	+	Silent	SNP	C	T	T	rs137882804	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:101555774C>T	uc001thz.4	-	12	1998	c.1608G>A	c.(1606-1608)ggG>ggA	p.G536G		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	536					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGACAAGTATCCCCACTAATA	0.323000														152			32		0	0	0.003755	0	0
ZNF638	27332	broad.mit.edu	37	2	71650395	71650395	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:71650395A>T	uc002shx.3	+	21	4074	c.3751A>T	c.(3751-3753)Att>Ttt	p.I1251F	ZNF638_uc010yqw.1_Missense_Mutation_p.I830F|ZNF638_uc002shz.3_Missense_Mutation_p.I1251F|ZNF638_uc002shy.3_Missense_Mutation_p.I1251F|ZNF638_uc002sia.3_Missense_Mutation_p.I1251F|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.I348F|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1251	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAAGATTTCATTTCTGGAAT	0.368000														37			12		0	0	0.013537	0	0
LRRC6	23639	broad.mit.edu	37	8	133673737	133673737	+	Silent	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:133673737G>C	uc003ytk.3	-	1	221	c.147C>G	c.(145-147)ctC>ctG	p.L49L	LRRC6_uc022bbp.1_Silent_p.L49L|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	49						cytoplasm		p.L49L(4)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGAAGATAGAGAATTTTTA	0.358000														31			8		0	0	0.006214	0	0
COL6A2	1292	broad.mit.edu	37	21	47545524	47545524	+	Silent	SNP	C	T	T	rs150253422	byFrequency	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:47545524C>T	uc002zia.1	+	24	2044	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	COL6A2_uc002zhz.1_Silent_p.S654S|COL6A2_uc002zhy.1_Silent_p.S654S|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	654	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCCCAAGTCCGAGACAGGTC	0.632000														23			4		0	0	0.009096	0	0
SASS6	163786	broad.mit.edu	37	1	100550937	100550937	+	Missense_Mutation	SNP	C	T	T	rs148677150	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:100550937C>T	uc001dsu.3	-	16	2062	c.1921G>A	c.(1921-1923)Gcg>Acg	p.A641T	SASS6_uc009wdz.3_Missense_Mutation_p.A474T	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	641					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GAGGGGAGCGCTGTGGGTTTG	0.403000														106			47		0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196602695	196602695	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:196602695C>T	uc002utj.4	-	64	12126	c.12025G>A	c.(12025-12027)Gaa>Aaa	p.E4009K	DNAH7_uc002uti.4_Missense_Mutation_p.E492K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	4009					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E4009A(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCAGTGTTCCTTGGGTTGG	0.443000														27			7		0	0	0.004482	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431786	140431786	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140431786G>A	uc003lik.1	+	0	808	c.731G>A	c.(730-732)cGa>cAa	p.R244Q		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	244	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTTCTCGCGACTGGTGTAC	0.597000														23			11		0	0	0.013537	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064897	63064897	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:63064897C>T	uc009yor.3	+	2	837	c.629C>T	c.(628-630)tCc>tTc	p.S210F	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	210						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTTTTTCTTCCATGATCATT	0.398000														46			30		0	0	0.009535	0	0
GGA3	23163	broad.mit.edu	37	17	73237075	73237075	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:73237075C>G	uc002jni.2	-	10	1049	c.1010G>C	c.(1009-1011)aGt>aCt	p.S337T	GGA3_uc002jnk.2_Missense_Mutation_p.S265T|GGA3_uc002jnj.2_Missense_Mutation_p.S304T|GGA3_uc010wry.2_Missense_Mutation_p.S265T|GGA3_uc010wrw.2_Missense_Mutation_p.S215T|GGA3_uc010wrx.2_Missense_Mutation_p.S215T	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	337	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGAGGACAAACTGTTGGTCGT	0.592000											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			40		0	0	0.008740	0	0
RYR1	6261	broad.mit.edu	37	19	38983275	38983275	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:38983275C>T	uc002oit.3	+	38	6404	c.6274_splice	c.e38+1	p.R2092_splice	RYR1_uc002oiu.3_Splice_Site_p.R2092_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2092	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGCAAACCCCGTGAGGACT	0.627000														18			4		0	0	0.009096	0	0
ZNF407	55628	broad.mit.edu	37	18	72344446	72344446	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr18:72344446G>A	uc002llw.2	+	0	1524	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	ZNF407_uc010xfc.2_Missense_Mutation_p.V491M|ZNF407_uc010dqu.2_Missense_Mutation_p.V491M|ZNF407_uc002llu.2_Missense_Mutation_p.V490M	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGAGTGTGTGTGACTACCTC	0.552000														57			12		0	0	0.013537	0	0
PCSK2	5126	broad.mit.edu	37	20	17434472	17434472	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:17434472C>T	uc002wpm.3	+	8	1325	c.971C>T	c.(970-972)tCc>tTc	p.S324F	PCSK2_uc002wpl.3_Missense_Mutation_p.S305F|PCSK2_uc010zrm.2_Missense_Mutation_p.S289F	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	324	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCTACGCCTCCAGCATGTGG	0.637000														46			22		0	0	0.012319	0	0
PGK2	5232	broad.mit.edu	37	6	49754123	49754123	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:49754123C>T	uc003ozu.3	-	0	931	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	260					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTCCCTCTTCATCAAACAGG	0.403000														82			22		0	0	0.012319	0	0
GATM	2628	broad.mit.edu	37	15	45660395	45660395	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:45660395G>A	uc001zvc.3	-	3	877	c.548C>T	c.(547-549)cCc>cTc	p.P183L	GATM_uc001zvb.3_Missense_Mutation_p.P54L|GATM_uc010uev.1_Missense_Mutation_p.P236L	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	183					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CCATGCCATGGGAGCCTCGAT	0.483000														37			8		0	0	0.003080	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	A	A	rs3917742	byFrequency	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:169578921G>A	uc001ggi.4	-	7	1219	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_uc001ggh.3_Missense_Mutation_p.S220L|SELP_uc009wvr.3_Missense_Mutation_p.S385L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000														15			6		0	0	0.001168	0	0
CHST7	56548	broad.mit.edu	37	X	46433815	46433815	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:46433815A>T	uc022bvm.1	+	0	449	c.449A>T	c.(448-450)cAg>cTg	p.Q150L	CHST7_uc004dgt.3_Missense_Mutation_p.Q150L	NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 (CHST7), mRNA.	150					N-acetylglucosamine metabolic process|chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity|chondroitin 6-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						GAGAGCTTGCAGGGCGCGCTG	0.672000														55			26		0	0	0.008361	0	0
GPR112	139378	broad.mit.edu	37	X	135445670	135445670	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:135445670G>A	uc004ezu.1	+	12	7603	c.7312G>A	c.(7312-7314)Gaa>Aaa	p.E2438K	GPR112_uc010nsb.1_Missense_Mutation_p.E2233K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2438					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCTCAGTGGGAAAAGCCAAA	0.373000														44			19		0	0	0.010504	0	0
PSG8	440533	broad.mit.edu	37	19	43258474	43258475	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:43258474_43258475GA>AC	uc002ouo.2	-	4	1351_1352	c.1253_1254TC>GT	c.(1252-1254)atc>aGT	p.I418S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Intron|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	418						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGGATACTGGGATCCGCTTACC	0.485000														348			62		0	0	0.004672	0	0
GABRA2	2555	broad.mit.edu	37	4	46314589	46314589	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:46314589A>T	uc011bzc.1	-	3	647	c.235T>A	c.(235-237)Tca>Aca	p.S79T	GABRA2_uc003gxc.3_Missense_Mutation_p.S134T|GABRA2_uc010igc.2_Missense_Mutation_p.S134T|GABRA2_uc003gxe.3_Missense_Mutation_p.S134T			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	134					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAGCTACTGATTTTTTCCCA	0.348000														76			10		0	0	0.013537	0	0
SAGE1	55511	broad.mit.edu	37	X	134987465	134987465	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:134987465G>A	uc004ezh.3	+	4	535	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	SAGE1_uc010nry.1_Missense_Mutation_p.R92Q|SAGE1_uc011mvv.2_Missense_Mutation_p.R123Q	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	123								p.R123R(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGCCAATCTCGAACTGACAAA	0.468000														65			10		0	0	0.008291	0	0
OR2C1	4993	broad.mit.edu	37	16	3406086	3406086	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:3406086C>T	uc002cuw.1	+	0	198	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTTGCTTTCCCGCCTGGAG	0.512000														133			29		0	0	0.010818	0	0
SRCAP	10847	broad.mit.edu	37	16	30749824	30749824	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:30749824C>T	uc002dze.1	+	33	8848	c.8463C>T	c.(8461-8463)ccC>ccT	p.P2821P	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P2616P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2821	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCACTCCACCCCAGCAGCCCT	0.642000														53			25		0	0	0.004656	0	0
NLGN1	22871	broad.mit.edu	37	3	173322668	173322668	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:173322668C>T	uc021xhm.1	+	0	600	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	NLGN1_uc003fio.1_Missense_Mutation_p.R94C|NLGN1_uc010hww.1_Missense_Mutation_p.R94C|NLGN1_uc003fip.1_Missense_Mutation_p.R94C	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	94					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R93L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGGGGAACGTCGTTTTCAGCC	0.453000														83			46		0	0	0.014410	0	0
EFCAB7	84455	broad.mit.edu	37	1	63998342	63998342	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:63998342G>A	uc001dbf.3	+	4	694	c.400_splice	c.e4-1	p.R134_splice		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	134	EF-hand 1.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TTTTTTCAGAGAGGTGAGAAG	0.338000														47			4		0	0	0.009096	0	0
RGS7	6000	broad.mit.edu	37	1	241031915	241031915	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:241031915C>T	uc001hyt.2	-	1	131	c.77G>A	c.(76-78)aGa>aAa	p.R26K	RGS7_uc010pyh.2_Missense_Mutation_p.R168K|RGS7_uc010pyj.1_Missense_Mutation_p.R110K|RGS7_uc001hyu.2_Missense_Mutation_p.R194K|RGS7_uc009xgn.1_Missense_Mutation_p.R141K|RGS7_uc001hyv.2_Missense_Mutation_p.R194K|RGS7_uc001hyw.2_Missense_Mutation_p.R194K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	194				K -> R (in Ref. 3; AAM12645).	G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCAGAACGCTCTCTCTTGGCT	0.483000														54			11		0	0	0.010729	0	0
MKI67	4288	broad.mit.edu	37	10	129903852	129903852	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:129903852C>G	uc001lke.3	-	12	6447	c.6252G>C	c.(6250-6252)caG>caC	p.Q2084H	MKI67_uc001lkf.3_Missense_Mutation_p.Q1724H|MKI67_uc009yav.1_Missense_Mutation_p.Q1659H|MKI67_uc009yaw.1_Missense_Mutation_p.Q1234H	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2084	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTCTGGTGTCTGGAAGAGCT	0.488000														156			66		0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3240439	3240439	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:3240439G>A	uc004crg.4	-	4	3444	c.3287C>T	c.(3286-3288)cCt>cTt	p.P1096L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1096						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTGGAGTCAGGCAAAGTGAT	0.493000														79			9		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179455759	179455759	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:179455759C>T	uc021vsy.1	-	252	53214	c.52989G>A	c.(52987-52989)ctG>ctA	p.L17663L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L11358L|TTN_uc021vta.1_Silent_p.L11291L|TTN_uc021vtb.1_Silent_p.L11166L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18590	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGGATTTTCAGCTTTGTCT	0.443000														141			52		0	0	0.014410	0	0
ATRX	546	broad.mit.edu	37	X	76776955	76776955	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:76776955C>T	uc004ecp.4	-	32	7229	c.6997G>A	c.(6997-6999)Gaa>Aaa	p.E2333K	ATRX_uc004ecq.4_Missense_Mutation_p.E2295K|ATRX_uc004eco.4_Missense_Mutation_p.E2118K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2333					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			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)	ACAACTTTTTCTCTTCCTTGA	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							38			8		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	107062402	107062402	+	RNA	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:107062402G>C	uc021ser.1	-	150		c.6584C>G								Parts of antibodies, mostly variable regions.																		TCCTGGGCCCGACTCCTGCAG	0.597000														52			3		0	0	0.000602	0	0
DIS3L	115752	broad.mit.edu	37	15	66604071	66604071	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:66604071G>A	uc010ujm.2	+	4	583	c.568G>A	c.(568-570)Gac>Aac	p.D190N	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.3_Missense_Mutation_p.D107N|DIS3L_uc002apq.2_Missense_Mutation_p.D190N|DIS3L_uc010bho.3_Missense_Mutation_p.D56N	NM_001143688	NP_588616	Q8TF46	DI3L1_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA.	190					rRNA catabolic process	cytoplasm|exosome (RNase complex)	RNA binding|exonuclease activity|protein binding|ribonuclease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAATTACCTGGACAATTTCTG	0.443000														80			19		0	0	0.008871	0	0
ITFG1	81533	broad.mit.edu	37	16	47294474	47294474	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:47294474G>A	uc002eet.3	-	10	1262	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	ITFG1_uc010vgg.2_Silent_p.F146F|ITFG1_uc010vgh.2_Silent_p.F288F	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	401						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AAATGTCAAAGAAGGTGGCAA	0.423000														51			13		0	0	0.004990	0	0
RADIL	55698	broad.mit.edu	37	7	4874770	4874770	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:4874770G>C	uc003snj.1	-	3	1057	c.884C>G	c.(883-885)cCt>cGt	p.P295R	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.P55R|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	295					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCAGTGTAGAGGCAGGATGTC	0.701000														13			3		0	0	0.004672	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291234	141291234	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:141291234C>T	uc022cfj.1	-	0	540	c.540G>A	c.(538-540)gtG>gtA	p.V180V	MAGEC2_uc004fbu.2_Silent_p.V180V	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	180	MAGE.					cytoplasm|nucleus		p.V180L(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGAGTATCACAGGAAAGT	0.478000										HNSCC(46;0.14)				143			56		0	0	0.014410	0	0
PLAC8	51316	broad.mit.edu	37	4	84026067	84026067	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:84026067C>T	uc003hoe.3	-	2	386	c.225G>A	c.(223-225)agG>agA	p.R75R	PLAC8_uc011cco.2_Silent_p.R75R|PLAC8_uc010ijy.3_Non-coding_Transcript|PLAC8_uc010ijz.3_Intron|PLAC8_uc003hod.2_Silent_p.R75R	NM_001130716	NP_057703	Q9NZF1	PLAC8_HUMAN	Homo sapiens placenta-specific 8 (PLAC8), transcript variant 1, mRNA.	75										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CATATCGGGTCCTGTAGAGAG	0.433000														59			22		0	0	0.002780	0	0
PTGER2	5732	broad.mit.edu	37	14	52781313	52781313	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:52781313G>C	uc001wzr.3	+	0	298	c.47G>C	c.(46-48)cGa>cCa	p.R16P		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	16						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGCGAGACGCGACAGTGGCTT	0.652000														28			9		0	0	0.006214	0	0
SPG7	6687	broad.mit.edu	37	16	89598917	89598917	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:89598917C>T	uc002fnj.3	+	8	1218	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	SPG7_uc002fni.3_Silent_p.A399A	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	399					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		AAGCCCGAGCCCGGGCCCCCT	0.597000														50			17		0	0	0.004990	0	0
SFTPB	6439	broad.mit.edu	37	2	85893805	85893805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:85893805G>A	uc002sqj.3	-	4	464	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	SFTPB_uc002sqi.3_Missense_Mutation_p.P122S|SFTPB_uc002sqh.3_Missense_Mutation_p.P122S	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	110	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TTGCACTGGGGCATGAGCAGC	0.612000														118			28		0	0	0.009535	0	0
FAM13B	51306	broad.mit.edu	37	5	137354780	137354780	+	Silent	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:137354780A>C	uc003lbz.2	-	2	555	c.21T>G	c.(19-21)ccT>ccG	p.P7P	FAM13B_uc003lcb.2_Intron|FAM13B_uc003lca.2_Silent_p.P7P	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	7					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TACTCAAGGAAGGGGAGGAGC	0.403000														43			17		0	0	0.007413	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352685	16352685	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:16352685G>A	uc001axu.3	+	4	521	c.441G>A	c.(439-441)aaG>aaA	p.K147K	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.K104K|CLCNKA_uc001axv.3_Silent_p.K147K|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	147					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTGGGGCCAAGGTGGTGGGCC	0.612000														183			66		0	0	0.014410	0	0
COL6A3	1293	broad.mit.edu	37	2	238285927	238285927	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:238285927G>A	uc002vwl.2	-	6	2843	c.2558C>T	c.(2557-2559)cCt>cTt	p.P853L	COL6A3_uc002vwo.2_Missense_Mutation_p.P647L|COL6A3_uc010znj.1_Missense_Mutation_p.P246L|COL6A3_uc002vwq.3_Missense_Mutation_p.P647L|COL6A3_uc002vwr.3_Missense_Mutation_p.P446L|COL6A3_uc010znk.1_Missense_Mutation_p.P653L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	853	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGGACAACAGGGAACTGGCC	0.502000														55			22		0	0	0.014323	0	0
HK2	3099	broad.mit.edu	37	2	75117984	75117984	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:75117984C>T	uc002snd.3	+	17	4596	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	890	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.F890F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATGTGTCTTTCCTGCAGTCAG	0.552000														149			47		0	0	0.014410	0	0
SF3B1	23451	broad.mit.edu	37	2	198266520	198266520	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:198266520G>A	uc002uue.3	-	15	2364	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	772					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCGAATAAGGATTAACATCA	0.348000			Mis		myelodysplastic syndrome									57			8		0	0	0.004482	0	0
MAN2B1	4125	broad.mit.edu	37	19	12766548	12766548	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:12766548G>A	uc002mub.2	-	13	1866	c.1790C>T	c.(1789-1791)cCc>cTc	p.P597L	MAN2B1_uc010dyv.1_Missense_Mutation_p.P596L	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	597					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGATCTTCTGGGGATGGGCTG	0.572000														125			29		0	0	0.003271	0	0
WDR88	126248	broad.mit.edu	37	19	33623254	33623254	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:33623254C>T	uc002nui.3	+	0	257	c.179C>T	c.(178-180)cCc>cTc	p.P60L		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	60										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ACCCTCGACCCCCTGGCCTTG	0.637000														150			24		0	0	0.003954	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973427	29973427	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:29973427G>A	uc004dby.2	+	10	2089	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	527	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGAGGCCCTGAAGCACACCA	0.423000														33			12		0	0	0.010729	0	0
FRMD7	90167	broad.mit.edu	37	X	131212601	131212601	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:131212601G>A	uc004ewn.3	-	11	1622	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	FRMD7_uc022cdy.1_Missense_Mutation_p.P362S|FRMD7_uc011muy.2_Missense_Mutation_p.P467S	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	482					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGTACAAGGAATATAGGGC	0.478000														121			49		0	0	0.014410	0	0
CES5A	221223	broad.mit.edu	37	16	55905539	55905539	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:55905539G>A	uc021tir.1	-	3	648	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	CES5A_uc002eip.2_Missense_Mutation_p.P139S|CES5A_uc002eio.2_Missense_Mutation_p.P139S|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_Missense_Mutation_p.P33S	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	139						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGCCTTACGGGGAGCTTGGAG	0.562000														26			9		0	0	0.010729	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665054	6665054	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:6665054G>A	uc002mfk.2	-	4	988	c.606C>T	c.(604-606)ttC>ttT	p.F202F	TNFSF14_uc002mfj.2_Silent_p.F166F	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	202					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.S201N(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CACCACCCAGGAAGCTGCTGT	0.652000														22			38		0	0	0.004878	0	0
C4orf21	55345	broad.mit.edu	37	4	113540102	113540102	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:113540102G>T	uc003iau.3	-	5	1307	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I	C4orf21_uc003iaw.3_Missense_Mutation_p.L366I	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	366										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGTAATGAAAGGTCTTTCAAA	0.368000														64			6		8.12818e-05	9.86341e-05	0.001984	1	0
MPZL2	10205	broad.mit.edu	37	11	118130808	118130808	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:118130808C>T	uc001psn.3	-	3	928	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	MPZL2_uc001pso.3_Missense_Mutation_p.R182Q	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	182					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTCGGCCCATCGCTTTTTCCG	0.468000														229			74		0	0	0.014410	0	0
KRT72	140807	broad.mit.edu	37	12	52981545	52981545	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:52981545C>T	uc001sar.2	-	6	1266	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	KRT72_uc001saq.2_Missense_Mutation_p.G394S|KRT72_uc010sns.1_Missense_Mutation_p.G352S|KRT72_uc010snt.1_Missense_Mutation_p.G206S	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	394	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGCAGGGCGCCCTCCAGCTCA	0.657000														63			16		0	0	0.004990	0	0
LOC729862	729862	broad.mit.edu	37	5	28927186	28927186	+	RNA	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:28927186G>A	uc003jgz.1	+	0		c.210G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		AAAATTTGAAGAAGGATCTCG	0.448000														16			3		0	0	0.002450	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670745	94670745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:94670745G>A	uc001dqj.4	-	6	938	c.569C>T	c.(568-570)tCc>tTc	p.S190F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.S190F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	190					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTAAAGGGGAAAAATTTCC	0.338000														15			4		0	0	0.009096	0	0
STAG3	10734	broad.mit.edu	37	7	99799470	99799470	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:99799470C>G	uc003utx.1	+	21	2437	c.2282C>G	c.(2281-2283)tCt>tGt	p.S761C	STAG3_uc010lgs.1_Missense_Mutation_p.S549C|STAG3_uc011kjk.1_Missense_Mutation_p.S703C|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_5'UTR	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	761					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCACATTTCTAAATCAGAT	0.448000														69			18		0	0	0.007413	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909750	92909750	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:92909750C>T	uc001yak.3	+	6	612	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C	SLC24A4_uc001yai.3_Missense_Mutation_p.R133C|SLC24A4_uc010twm.2_Missense_Mutation_p.R197C|SLC24A4_uc010auj.3_Missense_Mutation_p.R88C|SLC24A4_uc010twn.2_5'UTR	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	197						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.S196Y(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGGTGGTCCGTCTGACGTG	0.657000														50			9		0	0	0.008291	0	0
ATG9A	79065	broad.mit.edu	37	2	220087022	220087022	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:220087022G>A	uc002vke.1	-	11	2185	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	ABCB6_uc010fwe.2_5'Flank|ABCB6_uc002vkc.2_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.R667W	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	667					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGAGCCCGGCCTGTGGGC	0.657000														106			28		0	0	0.009535	0	0
abParts	0	broad.mit.edu	37	22	22730670	22730670	+	RNA	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:22730670C>T	uc021wml.1	+	49		c.5476C>T								Parts of antibodies, mostly variable regions.																		ACAGGATATACTGGTACCAGC	0.557000														138			5		0	0	0.013537	0	0
IRF2	3660	broad.mit.edu	37	4	185310022	185310022	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:185310022A>C	uc003iwf.4	-	8	1140	c.940T>G	c.(940-942)Tct>Gct	p.S314A		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	314					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATGGAGGAAGAAAGGGGGAGG	0.587000														56			9		0	0	0.004482	0	0
MAP3K15	389840	broad.mit.edu	37	X	19390815	19390815	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:19390815C>T	uc022btq.1	-	21	3064	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K	MAP3K15_uc004czj.2_Missense_Mutation_p.E457K|MAP3K15_uc004czk.2_Missense_Mutation_p.E497K|MAP3K15_uc004czi.2_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1022							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGGTTCTGCTCCTCCCAGAGG	0.647000											OREG0019699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			9		0	0	0.004482	0	0
VSIG1	340547	broad.mit.edu	37	X	107301308	107301308	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:107301308C>T	uc011msk.2	+	1	251	c.90C>T	c.(88-90)ttC>ttT	p.F30F	VSIG1_uc004eno.3_Silent_p.F30F	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	30	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGACGGTTTCGTGAACGTGA	0.428000														52			4		0	0	0.009096	0	0
SEC16B	89866	broad.mit.edu	37	1	177930028	177930028	+	Silent	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:177930028A>C	uc001glj.1	-	11	1703	c.837T>G	c.(835-837)ccT>ccG	p.P279P	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001glh.1_Splice_Site|SEC16B_uc001gli.1_Silent_p.P278P|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Silent_p.P279P	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	278					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGGAACATGAGGGATGTAGA	0.527000														34			10		0	0	0.008291	0	0
SLC6A11	6538	broad.mit.edu	37	3	10960102	10960102	+	Missense_Mutation	SNP	G	A	A	rs141411603		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:10960102G>A	uc003bvz.3	+	7	1118	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	362					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.E362K(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TATGGCGTACGAGCAGGGGGT	0.577000														25			10		0	0	0.006214	0	0
COL12A1	1303	broad.mit.edu	37	6	75814981	75814981	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:75814981G>A	uc021zbv.1	-	52	8241	c.8206C>T	c.(8206-8208)Cca>Tca	p.P2736S	COL12A1_uc021zbw.1_Missense_Mutation_p.P1572S|COL12A1_uc003phs.3_Missense_Mutation_p.P2736S|COL12A1_uc003pht.3_Missense_Mutation_p.P1572S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2736	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAGAATTTGGAAAAGCAGGG	0.413000														22			6		0	0	0.001984	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					29			24		0	0	0.003954	0	0
ALG2	85365	broad.mit.edu	37	9	101980896	101980896	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:101980896G>A	uc004azf.3	-	1	641	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	ALG2_uc004azg.3_Silent_p.L98L	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	191					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATGTGAGACAGGGACTTGAAT	0.468000														57			21		0	0	0.003330	0	0
NDNF	79625	broad.mit.edu	37	4	121957792	121957793	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:121957792_121957793GG>AA	uc003idq.1	-	3	1860_1861	c.1333_1334CC>TT	c.(1333-1335)ccc>TTc	p.P445F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	445	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGGAAGAGAGGGAAATGACTGC	0.446000														112			15		0	0	0.004672	0	0
POTEE	445582	broad.mit.edu	37	2	132021834	132021834	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:132021834C>T	uc002tsn.2	+	14	2858	c.2806C>T	c.(2806-2808)Cta>Tta	p.L936L	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.L536L|POTEE_uc002tsl.2_Silent_p.L518L|POTEE_uc010fmy.1_Silent_p.L400L	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	936	Actin-like.						ATP binding										CAGCTCCTCCCTAGAGAAGAG	0.622000														223			20		0	0	0.007413	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Silent	SNP	G	A	A	rs149915358	byFrequency	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:121739511G>A	uc003ksw.1	+	2	287	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Silent_p.T27T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	27					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453000														92			31		0	0	0.010818	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543033	133543033	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:133543033G>A	uc002ttp.3	-	13	1725	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	451							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTTGCAGGGGGGATACTCC	0.468000														40			11		0	0	0.008291	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310792	75310792	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:75310792G>A	uc002azn.2	+	5	640	c.453G>A	c.(451-453)acG>acA	p.T151T	SCAMP5_uc002azl.2_Silent_p.T143T|SCAMP5_uc002azm.2_Silent_p.T143T|SCAMP5_uc002azk.2_Silent_p.T143T|SCAMP5_uc010uly.2_Silent_p.T72T	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	143					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCTTCGGAACGAACATTGGCT	0.592000														157			61		0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113668566	113668566	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:113668566G>A	uc003ynu.3	-	17	2980	c.2821C>T	c.(2821-2823)Cag>Tag	p.Q941*	CSMD3_uc003yns.3_Nonsense_Mutation_p.Q213*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q901*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q837*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	941	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTTCAGTCTGAAATCTAAGA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				40			14		0	0	0.004990	0	0
SERPINA4	5267	broad.mit.edu	37	14	95029969	95029969	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:95029969G>A	uc010avd.3	+	1	535	c.261G>A	c.(259-261)aaG>aaA	p.K87K	SERPINA4_uc001ydk.3_Silent_p.K50K|SERPINA4_uc001ydl.3_Silent_p.K50K	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	50					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGCCTCAAGATAGCCCCTG	0.562000														85			26		0	0	0.005443	0	0
MYH11	4629	broad.mit.edu	37	16	15851732	15851732	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:15851732G>C	uc002ddx.3	-	13	1655	c.1548C>G	c.(1546-1548)atC>atG	p.I516M	MYH11_uc002ddv.3_Missense_Mutation_p.I516M|MYH11_uc002ddw.3_Missense_Mutation_p.I509M|MYH11_uc002ddy.3_Missense_Mutation_p.I509M|MYH11_uc010bvg.3_Missense_Mutation_p.I341M|MYH11_uc002dea.1_Missense_Mutation_p.I215M	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	509	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCAAAGTCGATGAAGTTCC	0.597000			T	CBFB	AML									52			15		0	0	0.003163	0	0
SPO11	23626	broad.mit.edu	37	20	55913332	55913332	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:55913332G>A	uc002xye.3	+	9	838	c.745_splice	c.e9-1	p.G249_splice	MIR5095_uc021wfc.1_Intron|SPO11_uc002xyf.3_Splice_Site_p.G211_splice	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	249					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TTCCTTTTAGGGAAAGGGAGT	0.338000								Editing and processing nucleases						21			13		0	0	0.001855	0	0
TACC2	10579	broad.mit.edu	37	10	123846376	123846376	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:123846376G>A	uc001lfv.3	+	3	4721	c.4361G>A	c.(4360-4362)gGg>gAg	p.G1454E	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G1454E|TACC2_uc010qtv.2_Missense_Mutation_p.G1454E	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1454						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCTAGATGGGCCTCCAGGA	0.592000														20			6		0	0	0.003080	0	0
PLCB4	5332	broad.mit.edu	37	20	9440420	9440420	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:9440420G>A	uc021wam.1	+	30	3190	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	PLCB4_uc010gbx.3_Missense_Mutation_p.E1071K|PLCB4_uc021wal.1_Missense_Mutation_p.E1059K|PLCB4_uc002wnh.3_Missense_Mutation_p.E906K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1059					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAATGCCCACGAGCAGCAAAC	0.468000														27			5		0	0	0.000602	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72024626	72024626	+	Silent	SNP	T	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:72024626T>A	uc001swo.2	-	16	3938	c.3579A>T	c.(3577-3579)acA>acT	p.T1193T		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1193					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCATTACATGTTCCTGTTA	0.333000														36			14		0	0	0.002450	0	0
NEU4	129807	broad.mit.edu	37	2	242757595	242757595	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:242757595G>A	uc002wcp.2	+	3	1209	c.715G>A	c.(715-717)Gcg>Acg	p.A239T	NEU4_uc010fzr.3_Missense_Mutation_p.A226T|NEU4_uc002wcm.3_Missense_Mutation_p.A226T|NEU4_uc002wco.2_Missense_Mutation_p.A226T|NEU4_uc002wcn.2_Missense_Mutation_p.A238T	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	226						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GTGCCAGCTGGCGGCGGTGGA	0.697000														4			5		0	0	0.001168	0	0
SARDH	1757	broad.mit.edu	37	9	136594959	136594959	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:136594959C>T	uc004cep.4	-	5	977	c.843G>A	c.(841-843)atG>atA	p.M281I	SARDH_uc004ceo.3_Missense_Mutation_p.M281I|SARDH_uc011mdo.2_Missense_Mutation_p.M113I|SARDH_uc011mdn.2_Missense_Mutation_p.M281I	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	281					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGACTCCAGCCATCCGGCCCA	0.637000														54			9		0	0	0.004482	0	0
OR4C16	219428	broad.mit.edu	37	11	55340452	55340452	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:55340452G>A	uc010rih.2	+	0	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V283V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAACCCTGTGATTTACACGC	0.378000														8			5		0	0	0.000602	0	0
abParts	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:22664186A>G	uc021wml.1	+	31		c.2628A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGATCAAGAAAGCACTCTGA	0.498000														70			3		0	0	0.004672	0	0
SEMA3E	9723	broad.mit.edu	37	7	83277754	83277754	+	Silent	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:83277754C>G	uc003uhy.2	-	0	726	c.105G>C	c.(103-105)ctG>ctC	p.L35L		NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	35	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTTTATGTGACAGGCGTAACC	0.408000														33			6		0	0	0.001168	0	0
LY9	4063	broad.mit.edu	37	1	160786462	160786462	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:160786462C>T	uc001fwu.3	+	4	1201	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	LY9_uc001fwv.3_Missense_Mutation_p.S384F|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Missense_Mutation_p.S36F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	384	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGACCTGCTCCGTGGAGGAC	0.572000														12			3		0	0	0.009096	0	0
BCORL1	63035	broad.mit.edu	37	X	129154987	129154987	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:129154987G>A	uc022cdu.1	+	3	3513	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	BCORL1_uc010nrd.1_Missense_Mutation_p.E1059K	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1157					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGACCCCCAGGAATCCACCAA	0.562000														45			6		0	0	0.001168	0	0
ZNF283	284349	broad.mit.edu	37	19	44352211	44352211	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:44352211C>T	uc002oxr.4	+	6	1726	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S	ZNF283_uc002oxp.4_Silent_p.S347S	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GTGAGAAATCCCATGAATGTA	0.403000														144			24		0	0	0.014323	0	0
NCOR2	9612	broad.mit.edu	37	12	124832746	124832746	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:124832746C>T	uc021rga.1	-	28	4097	c.3980G>A	c.(3979-3981)aGa>aAa	p.R1327K	NCOR2_uc021rgb.1_Missense_Mutation_p.R1311K|NCOR2_uc010tbb.2_Missense_Mutation_p.R1320K|NCOR2_uc010tbc.2_Missense_Mutation_p.R1310K|NCOR2_uc021rgc.1_Missense_Mutation_p.R1310K|NCOR2_uc010tba.2_Missense_Mutation_p.R1328K|NCOR2_uc001ugj.1_Missense_Mutation_p.R1328K	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1328					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGATGGCTCTGCCCACGCG	0.647000											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			10		0	0	0.013537	0	0
WARS2	10352	broad.mit.edu	37	1	119619093	119619093	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:119619093G>A	uc001ehn.3	-	1	256	c.228C>T	c.(226-228)ctC>ctT	p.L76L	WARS2_uc010oxf.2_5'UTR|WARS2_uc001ehm.3_Silent_p.L76L|WARS2_uc010oxg.2_Intron|WARS2_uc010oxh.2_Silent_p.L76L|WARS2_uc010oxi.2_5'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.D75G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TAATGGAGTGGAGGTCAACAA	0.502000														76			16		0	0	0.004007	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762229	23762229	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:23762229C>T	uc003zpu.3	-	1	279	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	ELAVL2_uc003zps.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpt.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpv.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpw.3_Missense_Mutation_p.E2K	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	2					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGTTGTGTTTCCATGGCAGCA	0.398000														84			36		0	0	0.003755	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468710	26468710	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:26468710C>G	uc003nib.2	+	7	1765	c.1517C>G	c.(1516-1518)gCc>gGc	p.A506G	BTN2A1_uc021yni.1_Intron|BTN2A1_uc003nic.2_3'UTR|BTN2A1_uc011dko.2_Missense_Mutation_p.A445G	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	506	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTCACAGGAGCCAATGGGGTC	0.562000														117			7		0	0	0.003080	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277997	156277997	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:156277997A>T	uc003lwf.1	+	0	449	c.424A>T	c.(424-426)Atg>Ttg	p.M142L						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		ACAATTTGAAATGAGAAGGAA	0.398000														40			13		0	0	0.001855	0	0
PCNT	5116	broad.mit.edu	37	21	47786747	47786747	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:47786747A>T	uc002zji.4	+	14	2965	c.2858A>T	c.(2857-2859)cAc>cTc	p.H953L	PCNT_uc002zjj.3_Missense_Mutation_p.H835L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	953					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGACAAAACACGCTGCCGAC	0.592000														68			18		0	0	0.007413	0	0
RGPD3	653489	broad.mit.edu	37	2	107073477	107073477	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:107073477C>T	uc010ywi.1	-	3	412	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	119					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTGCTCTTTCCACCCAGTAT	0.343000														178			45		0	0	0.014410	0	0
DCX	1641	broad.mit.edu	37	X	110653558	110653558	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:110653558C>T	uc004epd.3	-	1	484	c.312G>A	c.(310-312)atG>atA	p.M104I	DCX_uc011msv.2_Missense_Mutation_p.M104I|DCX_uc004epe.3_Missense_Mutation_p.M23I|DCX_uc004epf.3_Missense_Mutation_p.M23I|DCX_uc004epg.3_Missense_Mutation_p.M23I	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	104					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCAACCCATTCATCCGGGAGC	0.502000														92			35		0	0	0.003271	0	0
PHF2P1	266695	broad.mit.edu	37	13	19622160	19622160	+	RNA	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:19622160C>T	uc001umb.1	-	9		c.3651G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		GCAGGTGCTTCCCCATGTACC	0.542000														52			21		0	0	0.003330	0	0
KLHL24	54800	broad.mit.edu	37	3	183368286	183368286	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:183368286C>T	uc003flv.3	+	2	437	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	KLHL24_uc003flw.3_Missense_Mutation_p.H48Y|KLHL24_uc003flx.3_Missense_Mutation_p.H48Y	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	48						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGATCATCCCATGCCGAAAA	0.408000														50			29		0	0	0.003271	0	0
COL18A1	80781	broad.mit.edu	37	21	46916433	46916434	+	Missense_Mutation	DNP	GA	CC	CC			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:46916433_46916434GA>CC	uc002zhi.3	+	28	3089_3090	c.3068_3069GA>CC	c.(3067-3069)gga>gCC	p.G1023A	COL18A1_uc002zhg.3_Missense_Mutation_p.G843A	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1258	Nonhelical region 4 (NC4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCCCCCCAGGACCTCCAGGGC	0.619000														97			15		0	0	0.004672	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499251	34499251	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:34499251T>A	uc002hky.2	-	6	610	c.460A>T	c.(460-462)Agg>Tgg	p.R154W	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	154	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATATGCTTCCTTAATGTCCCG	0.562000														532			56		0	0	0.014410	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381082	19381082	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:19381082C>T	uc002nmd.1	-	3	351	c.301G>A	c.(301-303)Gag>Aag	p.E101K	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	101						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGGTATGGCTCTCCCTGTGGG	0.622000														46			15		0	0	0.004990	0	0
BMP3	651	broad.mit.edu	37	4	81974564	81974564	+	Silent	SNP	G	A	A	rs146470758	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:81974564G>A	uc003hmg.4	+	2	1613	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	431					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.G431A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCGTTCCTGGGATTCCTGAGC	0.388000														91			31		0	0	0.013726	0	0
MAPK4	5596	broad.mit.edu	37	18	48248339	48248339	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr18:48248339C>T	uc002lev.3	+	3	1723	c.723C>T	c.(721-723)atC>atT	p.I241I	MAPK4_uc010xdm.2_Silent_p.I30I|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	241	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGCAACTCATCCTGGAGACCA	0.582000														11			6		0	0	0.001168	0	0
TAPBP	6892	broad.mit.edu	37	6	33272288	33272288	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:33272288G>A	uc003odx.2	-	4	1342	c.996C>T	c.(994-996)ctC>ctT	p.L332L	TAPBP_uc010jut.2_Silent_p.L245L|TAPBP_uc003odz.3_Silent_p.L332L|TAPBP_uc003ody.3_3'UTR|TAPBP_uc011drc.2_Silent_p.L332L	NM_003190	NP_003181	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA.	332	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GGCCACCCCGGAGTTCCCACT	0.687000														36			13		0	0	0.002450	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647745	51647745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:51647745G>A	uc002pvv.1	+	1	585	c.516G>A	c.(514-516)tgG>tgA	p.W172*	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	172	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGTGCCCTGGGCCTGTGAGC	0.637000														108			43		0	0	0.014410	0	0
PLB1	151056	broad.mit.edu	37	2	28854914	28854914	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:28854914C>T	uc002rmb.2	+	54	3953	c.3909C>T	c.(3907-3909)tcC>tcT	p.S1303S	PLB1_uc010ezj.2_Silent_p.S1292S|PLB1_uc002rme.2_Silent_p.S268S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1303	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ATGGCATCTCCAGTTTCTCCT	0.557000														56			12		0	0	0.002450	0	0
CLN3	1201	broad.mit.edu	37	16	28493690	28493690	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:28493690A>C	uc002dpo.3	-	11	1243	c.920T>G	c.(919-921)tTt>tGt	p.F307C	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.F229C|CLN3_uc002dpm.3_Missense_Mutation_p.F253C|CLN3_uc010vcu.2_Missense_Mutation_p.F207C|CLN3_uc010vcv.2_Missense_Mutation_p.F283C|CLN3_uc002dpp.3_Missense_Mutation_p.F307C|CLN3_uc021tfs.1_Missense_Mutation_p.F154C|CLN3_uc002dpt.1_Missense_Mutation_p.F207C|CLN3_uc002dpq.1_Missense_Mutation_p.F259C|CLN3_uc010bye.1_Missense_Mutation_p.F290C|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.F180C|CLN3_uc002dpu.1_Missense_Mutation_p.F205C|CLN3_uc002dpw.1_Missense_Mutation_p.F154C|CLN3_uc010vcw.1_Missense_Mutation_p.F253C|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	307					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GTTCCAGAAAAAGAGGAGTTC	0.612000														22			9		0	0	0.006214	0	0
OR10G3	26533	broad.mit.edu	37	14	22038000	22038000	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:22038000C>T	uc010tmb.2	-	0	876	c.876G>A	c.(874-876)cgG>cgA	p.R292R		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CCTCTTGGTTCCGCAGAGTGT	0.552000														56			17		0	0	0.006122	0	0
CACNA1B	774	broad.mit.edu	37	9	140946639	140946639	+	Splice_Site	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:140946639A>C	uc004cog.3	+	25	3952	c.3807_splice	c.e25+1	p.K1269_splice	CACNA1B_uc022bqn.1_Splice_Site_p.K1269_splice|CACNA1B_uc011mfd.2_Splice_Site_p.K870_splice|CACNA1B_uc004coi.3_Splice_Site_p.K483_splice	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1269					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)	CCCAAGCTCAAGGTTAGAGCC	0.532000														11			5		0	0	0.001168	0	0
TLR2	7097	broad.mit.edu	37	4	154625113	154625113	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:154625113C>T	uc003inq.3	+	2	1273	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	TLR2_uc003inr.3_Missense_Mutation_p.P352S|TLR2_uc003ins.3_Missense_Mutation_p.P352S|TLR2_uc021xtl.1_Missense_Mutation_p.P352S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	352					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTTTCTGGTTCCTTGTTTACT	0.303000														37			14		0	0	0.001855	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229502	124229502	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:124229502C>T	uc001ufr.3	+	12	1836	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	530					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGGCCCTTATCCCCTTGGCAT	0.537000														42			7		0	0	0.003080	0	0
EPHA4	2043	broad.mit.edu	37	2	222347308	222347308	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:222347308G>A	uc002vmq.3	-	4	1124	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	EPHA4_uc002vmr.2_Missense_Mutation_p.S361F|EPHA4_uc010zlm.1_Missense_Mutation_p.S302F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	361	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S361F(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CACATTATAGGAAATGTCCTG	0.517000														145			33		0	0	0.003755	0	0
SYNE1	23345	broad.mit.edu	37	6	152652612	152652612	+	Missense_Mutation	SNP	G	A	A	rs139490297		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:152652612G>A	uc021zhb.1	-	75	13431	c.13208C>T	c.(13207-13209)tCg>tTg	p.S4403L	SYNE1_uc003qot.4_Missense_Mutation_p.S4332L|SYNE1_uc003qou.4_Missense_Mutation_p.S4403L|SYNE1_uc010kiz.3_Missense_Mutation_p.S158L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4403					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.S4403L(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTATAAGCGATTTCAGGAG	0.522000										HNSCC(10;0.0054)				31			15		0	0	0.002450	0	0
SCN3A	6328	broad.mit.edu	37	2	166019313	166019313	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:166019313C>T	uc002ucx.3	-	7	1212	c.720G>A	c.(718-720)ctG>ctA	p.L240L	SCN3A_uc002ucy.3_Silent_p.L240L|SCN3A_uc002ucz.3_Silent_p.L240L|SCN3A_uc002uda.1_Silent_p.L109L|SCN3A_uc002udb.1_Silent_p.L109L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	240						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCGACTGGATCAGGGCCCCCA	0.458000														68			27		0	0	0.006320	0	0
RAVER2	55225	broad.mit.edu	37	1	65255083	65255083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:65255083C>T	uc001dbt.2	+	2	675	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	RAVER2_uc001dbs.2_Nonsense_Mutation_p.Q331*|RAVER2_uc010opb.2_Nonsense_Mutation_p.Q210*	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	331	RRM 2.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCACAGTAATCAAAAGGGCTT	0.368000														24			9		0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174681	140174681	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140174681C>T	uc003lhd.2	+	0	238	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.F44F|PCDHAC2_uc011czy.2_Silent_p.F44F	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L44Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.687000														65			19		0	0	0.008871	0	0
FBXL21	26223	broad.mit.edu	37	5	135272416	135272416	+	RNA	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:135272416T>G	uc021ydv.1	+	4		c.615T>G			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGGGGAGTTTGCCTCACCA	0.428000														111			30		0	0	0.004289	0	0
OPRD1	4985	broad.mit.edu	37	1	29189427	29189427	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:29189427G>A	uc001brf.1	+	2	993	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	251					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GGGCTCCAAGGAGAAGGACCG	0.637000														32			5		0	0	0.000602	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053559	5053559	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:5053559C>T	uc002cye.2	+	10	1467	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	429	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAGTCTTCCCCGTGCTCTGGA	0.637000														31			15		0	0	0.004007	0	0
OR52J3	119679	broad.mit.edu	37	11	5068287	5068287	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:5068287C>A	uc010qyv.2	+	0	532	c.532C>A	c.(532-534)Cat>Aat	p.H178N		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A177D(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAATAGCCCATTCCTACTG	0.418000														70			25		3.6726e-16	4.46919e-16	0.003954	1	0
DGCR5	26220	broad.mit.edu	37	22	18979458	18979458	+	RNA	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:18979458G>A	uc021wku.1	+	3		c.639G>A			DGCR5_uc002zon.2_Non-coding_Transcript|DGCR5_uc021wkv.1_Non-coding_Transcript					Homo sapiens DiGeorge syndrome critical region gene 5 (non-protein coding) (DGCR5), transcript variant 1, non-coding RNA.																		ATGGAGAAGCGAACCAAGCCT	0.577000														27			13		0	0	0.002450	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126161	62126161	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:62126161G>A	uc002yfe.1	-	3	784	c.618C>T	c.(616-618)ccC>ccT	p.P206P		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	206						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CACTCACGTTGGGGGAGGGCT	0.692000														29			4		0	0	0.000602	0	0
CR2	1380	broad.mit.edu	37	1	207644123	207644123	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:207644123G>A	uc001hfw.3	+	6	1383	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CR2_uc001hfv.3_Missense_Mutation_p.E422K|CR2_uc009xch.3_Missense_Mutation_p.E422K|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	422	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.E422K(2)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGGCAAAAGGAAGATAGACA	0.423000														46			12		0	0	0.013537	0	0
N4BP2L1	90634	broad.mit.edu	37	13	32981800	32981800	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:32981800C>G	uc001uuc.3	-	1	385	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	N4BP2L1_uc001uud.3_Missense_Mutation_p.E97Q|N4BP2L1_uc001uuf.3_Missense_Mutation_p.E97Q	NM_052818	NP_438169	Q5TBK1	N42L1_HUMAN	Homo sapiens NEDD4 binding protein 2-like 1 (N4BP2L1), transcript variant 1, mRNA.	97					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TGGTTCCATTCATGAGCTTCC	0.443000														48			26		0	0	0.004656	0	0
LRFN2	57497	broad.mit.edu	37	6	40400278	40400278	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:40400278G>A	uc003oph.1	-	1	1040	c.575C>T	c.(574-576)aCc>aTc	p.T192I		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	192						cell junction|integral to membrane|postsynaptic membrane		p.G191V(1)|p.G191C(1)|p.T192T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCTGCAAAGGTGCCCTCGGC	0.627000														67			12		0	0	0.002450	0	0
DSCAM	1826	broad.mit.edu	37	21	41719724	41719724	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:41719724C>T	uc002yyq.1	-	5	1535	c.1083G>A	c.(1081-1083)agG>agA	p.R361R	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	361	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCCTGTGATCCTCACATTTT	0.512000														242			33		0	0	0.004289	0	0
NPHS1	4868	broad.mit.edu	37	19	36321786	36321786	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:36321786G>A	uc002oby.3	-	27	3710	c.3554C>T	c.(3553-3555)cCg>cTg	p.P1185L		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1185	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.S1186fs*10(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTCCAGACGGGGGGTACGT	0.542000														152			29		0	0	0.010818	0	0
C16orf11	146325	broad.mit.edu	37	16	614009	614009	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:614009G>A	uc002chk.3	+	1	994	c.715G>A	c.(715-717)Gcc>Acc	p.A239T		NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	239	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGGCCTCGGCCAGCCCCCT	0.726000														11			6		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82785402	82785402	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:82785402G>A	uc003uhx.2	-	1	844	c.555C>T	c.(553-555)tcC>tcT	p.S185S	PCLO_uc003uhv.2_Silent_p.S185S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	185					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCTTCCTGGGATGCCTCAG	0.428000														21			22		0	0	0.002780	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261270	1261270	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:1261270C>T	uc002cks.3	+	21	4574	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	CACNA1H_uc002ckt.3_Silent_p.I1442I|CACNA1H_uc002cku.3_Silent_p.I148I|CACNA1H_uc010brj.3_Silent_p.I148I|CACNA1H_uc002ckv.3_Silent_p.I148I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1442					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTTCTTCATCATTTTTGGCA	0.627000														95			23		0	0	0.003755	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679718	160679718	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:160679718G>A	uc003qtf.3	-	0	246	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SLC22A2_uc003qth.2_Silent_p.F24F	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	24					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAGCCAAGAGGAAAAACATTT	0.622000														53			6		0	0	0.001168	0	0
C5	727	broad.mit.edu	37	9	123789470	123789470	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:123789470C>T	uc004bkv.3	-	7	871	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	C5_uc010mvm.1_Missense_Mutation_p.E281K|C5_uc010mvn.1_Missense_Mutation_p.E281K	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	281					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGCATCATTTCTTTTTGATCA	0.348000														15			3		0	0	0.004672	0	0
MYF6	4618	broad.mit.edu	37	12	81101508	81101508	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:81101508G>A	uc001szf.2	+	0	101	c.10G>A	c.(10-12)Gac>Aac	p.D4N		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	4					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CATGATGATGGACCTTTTTGA	0.468000														80			15		0	0	0.004007	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526369	234526369	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:234526369T>G	uc002vup.3	+	0	79	c.16T>G	c.(16-18)Tgg>Ggg	p.W6G	UGT1A1_uc010zmv.1_Missense_Mutation_p.W6G	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCGCACAGGGTGGACCAGCCC	0.562000														42			5		0	0	0.001855	0	0
KDM5C	8242	broad.mit.edu	37	X	53223567	53223567	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:53223567G>A	uc004drz.3	-	22	4325	c.3792C>T	c.(3790-3792)gcC>gcT	p.A1264A	KDM5C_uc022bxe.1_Silent_p.A1197A|KDM5C_uc004dsa.3_Silent_p.A1263A|AY927613_uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1264					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTCTCTGCAGGGCTACCAGCA	0.667000			"""N, F, S"""		clear cell renal carcinoma									12			9		0	0	0.008291	0	0
AK057473	0	broad.mit.edu	37	17	20805780	20805780	+	RNA	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:20805780C>T	uc002gyg.1	+	3		c.964C>T			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		TGCTGGCTTTCGTCTCTGATT	0.537000														20			6		0	0	0.001168	0	0
DENND4B	9909	broad.mit.edu	37	1	153909095	153909095	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:153909095A>G	uc001fdd.1	-	15	2763	c.2362T>C	c.(2362-2364)Tcc>Ccc	p.S788P		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	788								p.Q788Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCACTCGGGAGGGTGCCGAC	0.627000														36			4		0	0	0.009096	0	0
TSPAN12	23554	broad.mit.edu	37	7	120480103	120480103	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:120480103G>C	uc003vjk.3	-	2	501	c.127C>G	c.(127-129)Ctc>Gtc	p.L43V		NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	43					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GTTAAAGTGAGAACATTATTT	0.358000														44			11		0	0	0.008291	0	0
CNNM1	26507	broad.mit.edu	37	10	101124759	101124759	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:101124759C>T	uc010qpi.2	+	6	2465	c.2176_splice	c.e6+1	p.L726_splice	CNNM1_uc009xwe.3_Missense_Mutation_p.R726C|CNNM1_uc001kpp.4_Splice_Site_p.L726_splice|CNNM1_uc009xwf.3_Splice_Site_p.L726_splice|CNNM1_uc009xwg.3_Splice_Site_p.L126_splice	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	726					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTCTGTCTTTCGTATGTATCT	0.547000														15			6		0	0	0.001984	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518327	41518327	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:41518327C>T	uc002opr.1	+	6	1096	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.L163L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	363					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCGACCTTCTCCCCATGGGTG	0.547000														66			14		0	0	0.002450	0	0
COL4A1	1282	broad.mit.edu	37	13	110850886	110850886	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:110850886C>T	uc001vqw.4	-	20	1335	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	405	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCACTTGGTCCTGGCAGAGAT	0.592000														53			20		0	0	0.008871	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														39			10		0	0	0.010729	0	0
CD22	933	broad.mit.edu	37	19	35827052	35827052	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:35827052T>G	uc010edt.3	+	3	610	c.526T>G	c.(526-528)Tgg>Ggg	p.W176G	CD22_uc010edu.3_Missense_Mutation_p.W176G|CD22_uc010edv.3_Missense_Mutation_p.W176G|CD22_uc002nzb.4_Missense_Mutation_p.W176G|CD22_uc010xst.2_Splice_Site_p.W4_splice|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	176	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCAATTGCAGTGGCTCCTAGA	0.537000														77			66		0	0	0.014410	0	0
USP54	159195	broad.mit.edu	37	10	75286500	75286500	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:75286500G>A	uc001juo.3	-	13	2116	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	USP54_uc010qkk.2_5'Flank|USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.S700F	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	700					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGACGCCAGGAAGGAACCAA	0.493000														34			14		0	0	0.002450	0	0
PREX1	57580	broad.mit.edu	37	20	47267975	47267975	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:47267975T>C	uc002xtw.1	-	21	2637	c.2614A>G	c.(2614-2616)Aag>Gag	p.K872E	PREX1_uc002xtv.1_Missense_Mutation_p.K169E	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	872					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCCACGATCTTCTCCAGCACA	0.627000														48			21		0	0	0.014323	0	0
XIRP2	129446	broad.mit.edu	37	2	168101989	168101989	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:168101989A>C	uc002udx.3	+	8	4176	c.4087A>C	c.(4087-4089)Aat>Cat	p.N1363H	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.N1188H|XIRP2_uc010fpq.3_Missense_Mutation_p.N1141H|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1188					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGACTCTATTAATAAATCAGA	0.368000														19			6		0	0	0.004482	0	0
ACAN	176	broad.mit.edu	37	15	89402335	89402335	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:89402335C>T	uc010upo.1	+	11	6893	c.6519C>T	c.(6517-6519)acC>acT	p.T2173T	ACAN_uc010upp.1_Silent_p.T2173T|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2173					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AATCCACCACCACCAGTGATG	0.582000														80			23		0	0	0.012319	0	0
ZNF366	167465	broad.mit.edu	37	5	71756366	71756366	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:71756366G>A	uc003kce.1	-	1	1144	c.958C>T	c.(958-960)Cag>Tag	p.Q320*		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGCTGGTCTGGGTGAAGGCC	0.647000														28			6		0	0	0.001984	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279916	47279916	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:47279916G>A	uc001cqn.4	+	6	895	c.811G>A	c.(811-813)Gat>Aat	p.D271N	CYP4B1_uc009vyl.1_Missense_Mutation_p.D107N|CYP4B1_uc001cqm.4_Missense_Mutation_p.D270N|CYP4B1_uc009vym.3_Missense_Mutation_p.D256N|CYP4B1_uc010omk.2_Missense_Mutation_p.D107N|CYP4B1_uc010oml.1_Missense_Mutation_p.D108N	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	270					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.E271*(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGCCCTGCAGGATGAGAAGGT	0.577000														27			5		0	0	0.001168	0	0
MAP7D3	79649	broad.mit.edu	37	X	135328301	135328301	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:135328301T>G	uc004ezt.3	-	2	397	c.176A>C	c.(175-177)gAt>gCt	p.D59A	MAP7D3_uc004ezs.3_Missense_Mutation_p.D59A|MAP7D3_uc011mwc.2_Missense_Mutation_p.D41A|MAP7D3_uc010nsa.2_Missense_Mutation_p.D58A	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	59						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CATGGATCCATCGATTACTAA	0.299000														64			15		0	0	0.003163	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261995	125261995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:125261995C>T	uc010flu.3	+	7	1553	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.R396*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	396	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T397T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTCCAGTTTCGAACATGGAA	0.552000														66			20		0	0	0.014323	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740509	50740509	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:50740509G>A	uc003paf.3	+	7	1803	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	431							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGCCAACTCGGAGAAAGCTCC	0.478000														18			4		0	0	0.001984	0	0
ORC1	4998	broad.mit.edu	37	1	52859236	52859236	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:52859236G>A	uc001ctt.3	-	5	1192	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ORC1_uc010oni.2_Nonsense_Mutation_p.R321*|ORC1_uc001ctu.3_Nonsense_Mutation_p.R321*	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	321					DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTGCAATTCGGGTTCTCAGG	0.478000														105			16		0	0	0.007413	0	0
C2orf71	388939	broad.mit.edu	37	2	29295441	29295441	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:29295441C>T	uc002rmt.2	-	0	1687	c.1687G>A	c.(1687-1689)Gac>Aac	p.D563N		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	563					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCAGACCAGTCCTGGTGCCCA	0.597000														47			15		0	0	0.006122	0	0
LTBP4	8425	broad.mit.edu	37	19	41113436	41113436	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:41113436G>A	uc002ooh.1	+	10	1357	c.1357_splice	c.e10+1	p.E453_splice	LTBP4_uc002oog.1_Splice_Site_p.E416_splice|LTBP4_uc002ooi.1_Splice_Site_p.E386_splice|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	453	TB 2.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCGGCTCAGGTGAGCCCCTG	0.647000														8			8		0	0	0.003080	0	0
ZNF462	58499	broad.mit.edu	37	9	109688887	109688887	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:109688887C>T	uc004bcz.3	+	2	2983	c.2694C>T	c.(2692-2694)ttC>ttT	p.F898F	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.F746F|ZNF462_uc004bda.3_Silent_p.F746F	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	898					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACCAACTTCGAAGATCTCC	0.468000														59			24		0	0	0.002780	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808304	48808304	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:48808304G>A	uc002rwp.2	+	1	646	c.532G>A	c.(532-534)Gag>Aag	p.E178K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E178K|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E178K|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E178K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E178K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	178					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTATTTTCGAGAGGACTGTGC	0.433000														40			6		0	0	0.001984	0	0
OR8B2	26595	broad.mit.edu	37	11	124252384	124252384	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:124252384G>A	uc010sai.2	-	0	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGATGAGGGGATTGAGCATG	0.383000														49			19		0	0	0.007413	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858413	15858413	+	Silent	SNP	T	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:15858413T>C	uc002yju.1	-	7	1024	c.942A>G	c.(940-942)gaA>gaG	p.E314E	SAMSN1_uc010gky.1_Silent_p.E146E|SAMSN1_uc002yjv.1_Silent_p.E382E	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	314					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGGGCTCAGGTTCATTTTCTT	0.388000														22			11		0	0	0.013537	0	0
TET1	80312	broad.mit.edu	37	10	70451265	70451265	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:70451265C>T	uc001jok.4	+	11	6610	c.6105C>T	c.(6103-6105)caC>caT	p.H2035H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	2035					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGTTGAGCACCCCAACCGTA	0.502000														42			23		0	0	0.014323	0	0
TRIM55	84675	broad.mit.edu	37	8	67066388	67066388	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:67066388G>A	uc003xvv.3	+	8	1569	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D	TRIM55_uc003xvu.3_Missense_Mutation_p.G448D|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	448						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGTATAAAGGCCAAACCCGG	0.552000														44			16		0	0	0.004007	0	0
MST1P9	11223	broad.mit.edu	37	1	17084276	17084276	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:17084276C>T	uc010ock.2	-	12	1741	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.E181K					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						CCTGCAATCTCACACTTGGTC	0.587000														404			34		0	0	0.006999	0	0
TMED4	222068	broad.mit.edu	37	7	44620740	44620740	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:44620740C>G	uc003tli.3	-	3	508	c.486G>C	c.(484-486)caG>caC	p.Q162H	TMED4_uc003tlj.3_Missense_Mutation_p.Q103H|TMED4_uc003tlk.3_Missense_Mutation_p.Q162H|DQ574505_uc003tll.3_5'Flank	NM_182547	NP_872353	Q7Z7H5	TMED4_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 4 (TMED4), mRNA.	162					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GATCAAGCAACTGGCGGGCGC	0.517000														39			9		0	0	0.013537	0	0
PZP	5858	broad.mit.edu	37	12	9316319	9316319	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:9316319A>G	uc001qvl.3	-	20	2710	c.2681T>C	c.(2680-2682)gTt>gCt	p.V894A	PZP_uc009zgl.3_Intron|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Intron	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGGACCTCAACAACCTCATT	0.408000														52			16		0	0	0.004007	0	0
OR1L1	26737	broad.mit.edu	37	9	125424517	125424517	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:125424517C>T	uc022bmz.1	+	0	523	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AAATGTCATCCATCACTTTTT	0.428000														175			51		0	0	0.014410	0	0
OBSCN	84033	broad.mit.edu	37	1	228462473	228462473	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:228462473C>G	uc009xez.1	+	19	5928	c.5884C>G	c.(5884-5886)Ctg>Gtg	p.L1962V	OBSCN_uc001hsn.3_Missense_Mutation_p.L1962V|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1962	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACCTGGTGCTGGAGGACGC	0.647000														10			4		0	0	0.000602	0	0
ENC1	8507	broad.mit.edu	37	5	73931057	73931057	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:73931057G>A	uc003kdc.4	-	1	2385	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	ENC1_uc011css.2_Silent_p.D345D|ENC1_uc021yao.1_Silent_p.D418D	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	418					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGATTGTGGGGTCATAATGTT	0.547000														88			39		0	0	0.010771	0	0
GPX6	257202	broad.mit.edu	37	6	28483487	28483487	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:28483487G>A	uc021yrx.1	-	0	84	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	12					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGGAAAAACAGGACAAGACAG	0.552000														35			7		0	0	0.003080	0	0
NDUFA9	4704	broad.mit.edu	37	12	4758313	4758313	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:4758313C>T	uc001qnc.3	+	0	50	c.21C>T	c.(19-21)tcC>tcT	p.S7S	NDUFA9_uc009zei.2_Silent_p.S7S	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	7					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CCGCACAATCCCGGGTTGTCC	0.587000														17			4		0	0	0.009096	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602407	47602407	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:47602407A>T	uc001nga.2	+	3	334	c.252A>T	c.(250-252)ttA>ttT	p.L84F	NDUFS3_uc001nft.3_Missense_Mutation_p.L63F|KBTBD4_uc001nfw.2_5'Flank|KBTBD4_uc001nfx.3_5'Flank|KBTBD4_uc001nfz.3_5'Flank|KBTBD4_uc001nfy.3_5'Flank|NDUFS3_uc010rhn.1_Missense_Mutation_p.L84F	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	84					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	TCAATGAGTTAGAGGTCTGTA	0.498000														116			35		0	0	0.006230	0	0
CAMKK2	10645	broad.mit.edu	37	12	121711955	121711955	+	Silent	SNP	G	A	A	rs146945076		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:121711955G>A	uc001tzv.3	-	1	1204	c.375C>T	c.(373-375)tcC>tcT	p.S125S	CAMKK2_uc001tzt.3_Silent_p.S125S|CAMKK2_uc001tzu.3_Silent_p.S125S|CAMKK2_uc001tzw.3_Silent_p.S125S|CAMKK2_uc001tzx.3_Silent_p.S125S|CAMKK2_uc001tzy.3_Silent_p.S125S|CAMKK2_uc001uaa.1_Silent_p.S125S|CAMKK2_uc001uab.3_Silent_p.S125S|CAMKK2_uc001uac.3_Silent_p.S125S|CAMKK2_uc001uad.2_Silent_p.S125S	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	125					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTAGGGCAGGGACGGGCAGA	0.687000														180			64		0	0	0.014410	0	0
MAST4	375449	broad.mit.edu	37	5	66461218	66461218	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:66461218G>A	uc021xzk.1	+	28	6519	c.6211G>A	c.(6211-6213)Gag>Aag	p.E2071K	MAST4_uc003jut.2_Missense_Mutation_p.E1882K|MAST4_uc003juw.3_Missense_Mutation_p.E1810K|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2074						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTGTGAGAAGGAGCTGGGCAA	0.602000														43			13		0	0	0.013537	0	0
RLIM	51132	broad.mit.edu	37	X	73812410	73812410	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:73812410G>A	uc004ebu.3	-	4	1030	c.740C>T	c.(739-741)tCa>tTa	p.S247L	RLIM_uc004ebw.3_Missense_Mutation_p.S247L	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	247					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTCTGAGATGAGATACTATG	0.473000														99			12		0	0	0.013537	0	0
KLF14	136259	broad.mit.edu	37	7	130418269	130418269	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:130418269G>A	uc003vqk.2	-	0	620	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Homo sapiens Kruppel-like factor 14 (KLF14), mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCCGGGAAGGGGCATTGGTGG	0.682000														272			194		0	0	0.014410	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502321	140502321	+	Silent	SNP	G	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140502321G>T	uc003lip.1	+	0	741	c.741G>T	c.(739-741)ggG>ggT	p.G247G		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	247	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCATATGGGGTGCAGGTCC	0.488000														84			25		1.55469e-16	1.89725e-16	0.003330	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133692579	133692579	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:133692579C>G	uc003eqa.4	-	2	599	c.325G>C	c.(325-327)Gct>Cct	p.A109P	SLCO2A1_uc011blv.2_Missense_Mutation_p.A109P|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	109					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCACCTGCAGCCAGGAAGAGA	0.577000														27			4		0	0	0.009096	0	0
COL6A2	1292	broad.mit.edu	37	21	47552187	47552187	+	Silent	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:47552187C>G	uc002zia.1	+	27	2863	c.2781C>G	c.(2779-2781)gcC>gcG	p.A927A	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	927	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCATCAATGCCATCGTGCGCA	0.662000														14			4		0	0	0.001984	0	0
DBH	1621	broad.mit.edu	37	9	136516842	136516843	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:136516842_136516843GG>AA	uc004cel.3	+	6	1287_1288	c.1278_1279GG>AA	c.(1276-1281)cgggac>cgAAac	p.D427N		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	427					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGCTGGTCCGGGACGGCCGGGA	0.653000														17			14		0	0	0.004672	0	0
MAPRE1	22919	broad.mit.edu	37	20	31427587	31427587	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr20:31427587G>A	uc002wyh.3	+	4	661	c.522G>A	c.(520-522)aaG>aaA	p.K174K		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	174	Interaction with MTUS2/TIP150.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CGGCTCCTAAGGCTGGCCCTG	0.557000														217			74		0	0	0.014410	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750496	41750496	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:41750496A>T	uc003gwf.4	-	0	492	c.132T>A	c.(130-132)taT>taA	p.Y44*		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	44					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TTATCGGGTTATACTGGAAGC	0.622000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					126			5		0	0	0.001168	0	0
FAM181A	90050	broad.mit.edu	37	14	94395153	94395153	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:94395153G>A	uc001ybz.2	+	2	1033	c.708G>A	c.(706-708)ttG>ttA	p.L236L	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.L174L|FAM181A_uc021saz.1_Silent_p.L174L|FAM181A_uc010aus.2_Silent_p.L174L|FAM181A_uc001yca.2_Silent_p.L174L	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	236										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCAAGGGCTTGGAGCCCCTGG	0.632000														28			7		0	0	0.001984	0	0
KCND1	3750	broad.mit.edu	37	X	48823417	48823417	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:48823417G>A	uc004dlx.1	-	1	2791	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	KCND1_uc004dlw.1_Silent_p.V29V	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	406				V -> I (in Ref. 2; BAA96454).		voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						TGGACACAATGACTGGCACAG	0.577000														30			21		0	0	0.010504	0	0
MYF5	4617	broad.mit.edu	37	12	81110911	81110911	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:81110911C>T	uc001szg.2	+	0	204	c.69C>T	c.(67-69)tcC>tcT	p.S23S		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCATACCGTCCCCCGAGGGTG	0.617000														34			8		0	0	0.006214	0	0
CDK9	1025	broad.mit.edu	37	9	130549800	130549800	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:130549800C>T	uc004bse.2	+	2	301	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S		NM_001261	NP_001252	P50750	CDK9_HUMAN	Homo sapiens cyclin-dependent kinase 9 (CDK9), mRNA.	60	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|DNA binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						CACCCAGTTCCCCATTACAGC	0.493000														55			11		0	0	0.001855	0	0
FAM171B	165215	broad.mit.edu	37	2	187626379	187626379	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:187626379C>T	uc002ups.3	+	7	1422	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	FAM171B_uc002upr.1_Intron|FAM171B_uc002upt.3_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	437						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCATATAGTCCTCAGAAAAAG	0.348000														58			23		0	0	0.002780	0	0
NUFIP1	26747	broad.mit.edu	37	13	45515431	45515431	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:45515431T>G	uc001uzp.2	-	9	1440	c.1398A>C	c.(1396-1398)gaA>gaC	p.E466D		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	466					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCACATTTCTTTCATGTCGAA	0.328000														18			8		0	0	0.003080	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061796	103061796	+	Silent	SNP	A	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:103061796A>G	uc002tbx.3	+	8	1552	c.1068A>G	c.(1066-1068)agA>agG	p.R356R	IL18RAP_uc010fiz.3_Silent_p.R214R	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	356					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAGAAAAGAGAGGAGGTAAGC	0.453000														53			8		0	0	0.003080	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864327	102864327	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:102864327G>C	uc022cbu.1	+	0	335	c.335G>C	c.(334-336)aGa>aCa	p.R112T	TCEAL3_uc004ekq.3_Missense_Mutation_p.R112T|TCEAL3_uc004ekr.3_Missense_Mutation_p.R112T	NM_032926	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R112R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAAGCAAAAAGAAAAACGGAC	0.582000														97			16		0	0	0.006122	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626761	140626761	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140626761C>T	uc003lje.3	+	0	1615	c.1615C>T	c.(1615-1617)Ccg>Tcg	p.P539S		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	539	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGGCTTCCCGGCGCTGAG	0.672000														54			18		0	0	0.004990	0	0
RCOR3	55758	broad.mit.edu	37	1	211469090	211469090	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:211469090C>T	uc010psw.2	+	8	1207	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.P338S|RCOR3_uc001hif.3_Missense_Mutation_p.P338S|RCOR3_uc001hig.3_Missense_Mutation_p.P280S	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATTCAAACCTCCTGAGGTATG	0.343000														16			3		0	0	0.004672	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890082	23890082	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr15:23890082G>A	uc001ywj.4	-	0	2912	c.2808C>T	c.(2806-2808)caC>caT	p.H936H		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGGTGTTTGGGTGCTCCCAGT	0.627000														64			5		0	0	0.004482	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237049	22237049	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:22237049G>A	uc001wbt.1	+	1	133	c.126G>A	c.(124-126)aaG>aaA	p.K42K	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		AGAGCCAAAAGATAGAACAGA	0.478000														22			11		0	0	0.010729	0	0
MID2	11043	broad.mit.edu	37	X	107170226	107170226	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:107170226G>A	uc004enl.3	+	9	2704	c.2131G>A	c.(2131-2133)Gat>Aat	p.D711N	MID2_uc004enk.3_Missense_Mutation_p.D681N	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	711						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGATTTTATTGATTACCCTGA	0.418000														56			9		0	0	0.004482	0	0
CHGA	1113	broad.mit.edu	37	14	93393957	93393957	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:93393957C>T	uc001ybc.4	+	3	510	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	CHGA_uc001ybd.4_Missense_Mutation_p.L84F	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	84					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGACCTCGCTCTCCAAGGTAT	0.463000														132			38		0	0	0.006230	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504188	110504188	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:110504188G>A	uc003yne.3	+	61	10305	c.10201G>A	c.(10201-10203)Gat>Aat	p.D3401N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3401					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAACAGAAAAGATTTAAGTTC	0.338000										HNSCC(38;0.096)				8			4		0	0	0.009096	0	0
PRX	57716	broad.mit.edu	37	19	40901365	40901365	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:40901365G>A	uc002onr.3	-	6	3163	c.2894C>T	c.(2893-2895)tCa>tTa	p.S965L	PRX_uc002onq.3_Missense_Mutation_p.S826L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	965					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGGGGAGTGAGATGGCAAA	0.622000														90			66		0	0	0.014410	0	0
JDP2	122953	broad.mit.edu	37	14	75928163	75928163	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:75928163G>A	uc001xrq.3	+	2	462	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	JDP2_uc010asj.3_Missense_Mutation_p.R79Q|JDP2_uc010tvb.2_Missense_Mutation_p.R79Q|JDP2_uc010tvc.2_Missense_Mutation_p.R79Q	NM_001135049	NP_569736	Q8WYK2	JDP2_HUMAN	Homo sapiens Jun dimerization protein 2 (JDP2), transcript variant 4, mRNA.	79						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		AAAAGGCGCCGGGAGAAGAAC	0.587000														15			10		0	0	0.001855	0	0
ZNF169	169841	broad.mit.edu	37	9	97062951	97062951	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:97062951G>A	uc022bki.1	+	3	1169	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	ZNF169_uc004aum.1_Missense_Mutation_p.E371K	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				ACACACAGGGGAGAGGCCCTT	0.577000														34			7		0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26164456	26164456	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:26164456G>A	uc003abz.1	+	3	823	c.573G>A	c.(571-573)aaG>aaA	p.K191K	MYO18B_uc003aca.1_Silent_p.K72K|MYO18B_uc010guy.1_Silent_p.K72K|MYO18B_uc010guz.1_Silent_p.K72K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	191						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAAGGAAAAGAAAGGGGAGA	0.617000														19			3		0	0	0.000602	0	0
CNTN6	27255	broad.mit.edu	37	3	1418728	1418728	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:1418728G>A	uc003boz.3	+	16	2402	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	CNTN6_uc011asj.2_Missense_Mutation_p.G640E|CNTN6_uc003bpa.3_Missense_Mutation_p.G712E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	712	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGAGGTGGAGGAAGTCGGTCT	0.403000														60			31		0	0	0.004289	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47581254	47581254	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:47581254G>A	uc001cqu.1	+	9	1258	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	419						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTATTTCTGGGAAGACCCTCA	0.443000														31			10		0	0	0.010729	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883720	51883720	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:51883720G>A	uc001rys.1	+	18	2863	c.2685G>A	c.(2683-2685)atG>atA	p.M895I	SLC4A8_uc001rym.3_Missense_Mutation_p.M842I|SLC4A8_uc001ryn.3_Missense_Mutation_p.M842I|SLC4A8_uc001ryo.2_Missense_Mutation_p.M842I|SLC4A8_uc010snj.2_Missense_Mutation_p.M922I|SLC4A8_uc001ryr.3_Missense_Mutation_p.M895I	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	895					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CAGTCTTCATGACGGCTATCT	0.493000														72			10		0	0	0.006214	0	0
NUP62CL	54830	broad.mit.edu	37	X	106396512	106396512	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:106396512G>A	uc004ena.3	-	6	679	c.420C>T	c.(418-420)atC>atT	p.I140I	NUP62CL_uc004enb.3_Non-coding_Transcript	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	140					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						GCTGTGACAGGATAAAATCCA	0.373000														96			15		0	0	0.004007	0	0
AIM1	202	broad.mit.edu	37	6	107008779	107008779	+	Missense_Mutation	SNP	G	A	A	rs144319815		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:107008779G>A	uc003prh.3	+	16	5645	c.4733G>A	c.(4732-4734)gGt>gAt	p.G1578D	AIM1_uc003pri.3_Missense_Mutation_p.G382D	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1578	Beta/gamma crystallin 'Greek key' 12.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CGCCAAATAGGTTCTCTACGA	0.398000														85			31		0	0	0.004289	0	0
PBRM1	55193	broad.mit.edu	37	3	52610700	52610700	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:52610700C>T	uc003des.2	-	21	3560	c.3548G>A	c.(3547-3549)tGg>tAg	p.W1183*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.W1183*|PBRM1_uc003der.2_Nonsense_Mutation_p.W1151*|PBRM1_uc003det.2_Nonsense_Mutation_p.W1198*|PBRM1_uc003deu.2_Nonsense_Mutation_p.W1198*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.W1183*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.W1158*|PBRM1_uc003dey.2_Nonsense_Mutation_p.W1158*|PBRM1_uc003dez.1_Nonsense_Mutation_p.W1182*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1183	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.V1182fs*36(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTCGAACCCATACTTTTTC	0.328000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									18			15		0	0	0.004007	0	0
ALS2	57679	broad.mit.edu	37	2	202571691	202571691	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:202571691G>A	uc002uyo.3	-	28	4814	c.4458C>T	c.(4456-4458)taC>taT	p.Y1486Y	ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1486					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACAGCGGTGGGTAGAGCCGAG	0.413000														30			12		0	0	0.001855	0	0
PEX5	5830	broad.mit.edu	37	12	7362708	7362708	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:7362708C>G	uc009zfu.2	+	16	2389	c.1809C>G	c.(1807-1809)atC>atG	p.I603M	PEX5_uc001qsw.3_Missense_Mutation_p.I603M|PEX5_uc010sgc.2_Missense_Mutation_p.I618M|PEX5_uc001qsu.3_Missense_Mutation_p.I566M|PEX5_uc010sgd.2_Missense_Mutation_p.I624M|PEX5_uc001qsv.3_Missense_Mutation_p.I595M	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	603					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CGGAGAACATCTGGAGCACCC	0.597000														48			24		0	0	0.003330	0	0
TLE4	7091	broad.mit.edu	37	9	82333688	82333688	+	Silent	SNP	T	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:82333688T>C	uc004ald.3	+	15	2316	c.1467T>C	c.(1465-1467)ttT>ttC	p.F489F	TLE4_uc004alc.3_Silent_p.F464F|TLE4_uc010mpr.3_Silent_p.F343F|TLE4_uc004ale.3_Silent_p.F101F|TLE4_uc011lsq.2_Silent_p.F432F|TLE4_uc010mps.3_Silent_p.F388F|TLE4_uc004alf.3_Silent_p.F403F	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGTCCCTTTTCCACCCGACG	0.547000														71			19		0	0	0.010504	0	0
IQUB	154865	broad.mit.edu	37	7	123092876	123092876	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:123092876C>T	uc003vkn.3	-	12	2874	c.2297G>A	c.(2296-2298)gGt>gAt	p.G766D	IQUB_uc011kny.2_Missense_Mutation_p.G99D|IQUB_uc003vko.3_Missense_Mutation_p.G766D|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	766										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATCAATTTCACCATCATCAAG	0.383000														15			14		0	0	0.002450	0	0
PRKG1	5592	broad.mit.edu	37	10	54031112	54031112	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:54031112C>T	uc001jjm.3	+	10	1359	c.1131C>T	c.(1129-1131)gtC>gtT	p.V377V	PRKG1_uc001jjo.3_Silent_p.V392V|PRKG1_uc009xow.2_Silent_p.V95V|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	377	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTTTAAGGTCCAGTTGAAAA	0.408000														16			5		0	0	0.000602	0	0
SAMSN1	64092	broad.mit.edu	37	21	15918571	15918571	+	Silent	SNP	T	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:15918571T>C	uc002yju.1	-	0	94	c.12A>G	c.(10-12)agA>agG	p.R4R	SAMSN1_uc010gky.1_Silent_p.R4R|SAMSN1_uc002yjv.1_Intron	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	4					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGGATGGCTTTCTCTTGAGCA	0.348000														47			26		0	0	0.009535	0	0
HMHA1	23526	broad.mit.edu	37	19	1081008	1081008	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:1081008C>G	uc002lqz.1	+	16	2366	c.2135C>G	c.(2134-2136)gCc>gGc	p.A712G	HMHA1_uc010xgd.1_Missense_Mutation_p.A728G|HMHA1_uc010xge.1_Missense_Mutation_p.A580G|HMHA1_uc002lra.1_Missense_Mutation_p.A552G|HMHA1_uc002lrb.1_Missense_Mutation_p.A595G|HMHA1_uc002lrc.1_Missense_Mutation_p.A347G	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	712					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCACGCCCGCCAAGTGCCGC	0.692000														10			4		0	0	0.009096	0	0
ACTL8	81569	broad.mit.edu	37	1	18152407	18152407	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:18152407C>T	uc001bat.3	+	2	710	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	165						cytoplasm|cytoskeleton		p.R164H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAGGGCCGCCCCTTGCCCGCC	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			14		0	0	0.002450	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128035	117128035	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:117128035A>C	uc003pxj.1	-	2	855	c.833T>G	c.(832-834)cTg>cGg	p.L278R	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.L278R	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	278					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAATTGCCTCAGAAATACCAC	0.353000														36			21		0	0	0.010504	0	0
FBP2	8789	broad.mit.edu	37	9	97321399	97321399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:97321399C>T	uc004auv.3	-	6	908	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	BC080653_uc004aus.1_Non-coding_Transcript|BC080653_uc004aut.1_Non-coding_Transcript	NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	281					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGATTGCATTCATACAGGAGC	0.592000														26			5		0	0	0.001168	0	0
STAU2	27067	broad.mit.edu	37	8	74650519	74650519	+	Splice_Site	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:74650519C>G	uc003xzm.3	-	3	324	c.-17_splice	c.e3+1		STAU2_uc011lfh.2_Splice_Site|STAU2_uc003xzn.3_Splice_Site_p.Q6_splice|STAU2_uc011lfg.2_Intron|STAU2_uc003xzo.3_Splice_Site|STAU2_uc003xzq.3_Intron|STAU2_uc003xzp.3_Splice_Site_p.Q6_splice|STAU2_uc011lfi.2_Intron|STAU2_uc010lzk.3_Splice_Site_p.Q6_splice|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.3_Splice_Site_p.Q6_splice|STAU2_uc003xzr.3_Splice_Site	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.						transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			ACAAACTCACCTGATTTATTT	0.348000														30			8		0	0	0.003080	0	0
PLXNA1	5361	broad.mit.edu	37	3	126730864	126730864	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:126730864A>C	uc003ejg.3	+	8	2176	c.2176A>C	c.(2176-2178)Acc>Ccc	p.T726P		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	726					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.T703P(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAAACCCATCACCCTGGCCGC	0.652000														48			10		0	0	0.005443	0	0
SCRIB	23513	broad.mit.edu	37	8	144890932	144890932	+	Silent	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:144890932A>C	uc003yzp.1	-	14	1969	c.1962T>G	c.(1960-1962)gcT>gcG	p.A654A	SCRIB_uc003yzo.1_Silent_p.A654A	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	654	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCCGAGGAGCCCAGGGTG	0.667000														39			17		0	0	0.004007	0	0
FRYL	285527	broad.mit.edu	37	4	48517230	48517230	+	Silent	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:48517230T>G	uc003gyh.1	-	55	8357	c.7752A>C	c.(7750-7752)atA>atC	p.I2584I	FRYL_uc003gyf.1_5'UTR|FRYL_uc003gyg.1_Silent_p.I1280I|FRYL_uc003gyi.1_Silent_p.I1472I	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2584					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTTCTTGAATTATATAGGATC	0.368000														47			15		0	0	0.003163	0	0
COL4A5	1287	broad.mit.edu	37	X	107815042	107815042	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:107815042G>A	uc022ccg.1	+	8	641	c.439_splice	c.e8-1	p.G147_splice	COL4A5_uc004enz.1_Splice_Site_p.G147_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	147	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAATAATAGGGACCCCCTGGG	0.348000									Alport syndrome with Diffuse Leiomyomatosis					44			9		0	0	0.006214	0	0
NWD1	284434	broad.mit.edu	37	19	16899852	16899852	+	Missense_Mutation	SNP	G	A	A	rs140602425		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:16899852G>A	uc002neu.4	+	12	3213	c.2791G>A	c.(2791-2793)Gat>Aat	p.D931N	NWD1_uc002net.4_Missense_Mutation_p.D796N|NWD1_uc002nev.4_Missense_Mutation_p.D725N|NWD1_uc021uqg.1_Missense_Mutation_p.D796N	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	931							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTTCAAAGGATTACACGCT	0.498000														70			18		0	0	0.007413	0	0
ILDR2	387597	broad.mit.edu	37	1	166926004	166926004	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:166926004C>T	uc001gdx.2	-	2	521	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	155	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCTCATTTTTCCCCTCCAGGT	0.438000														42			19		0	0	0.012319	0	0
NONO	4841	broad.mit.edu	37	X	70514159	70514159	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:70514159C>T	uc004dzo.3	+	5	1141	c.431C>T	c.(430-432)gCc>gTc	p.A144V	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.A144V|NONO_uc004dzp.3_Missense_Mutation_p.A144V|NONO_uc011mpv.2_Missense_Mutation_p.A55V|NONO_uc004dzq.3_Missense_Mutation_p.A13V	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	144	DBHS.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GTGCGCTTTGCCTGCCATAGT	0.522000			T	TFE3	papillary renal cancer									59			11		0	0	0.013537	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171534	150171534	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:150171534G>A	uc003whj.3	+	3	1447	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	373						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)		AGGGGATCAGGATCTAGATAC	0.398000														94			75		0	0	0.014410	0	0
COL11A2	1302	broad.mit.edu	37	6	33136775	33136775	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:33136775C>G	uc003ocx.1	-	51	4037	c.3809G>C	c.(3808-3810)gGt>gCt	p.G1270A	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1184A|COL11A2_uc003ocz.1_Missense_Mutation_p.G1163A	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1270	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGAAAACCAACAGGACC	0.602000														60			13		0	0	0.002450	0	0
GAD2	2572	broad.mit.edu	37	10	26589769	26589769	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:26589769G>A	uc001isp.2	+	15	2140	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	GAD2_uc001isq.2_Missense_Mutation_p.S546N	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	546					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ACAATGGTCAGCTACCAACCC	0.483000														50			33		0	0	0.004289	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204403714	204403714	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:204403714G>A	uc001haw.3	-	24	4018	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	PIK3C2B_uc010pqv.2_Missense_Mutation_p.S1152F	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1180	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCAGCGCAGGAGTAGATAAA	0.547000														23			5		0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196651805	196651805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:196651805G>A	uc002utj.4	-	57	10908	c.10807C>T	c.(10807-10809)Cct>Tct	p.P3603S	DNAH7_uc002uti.4_Missense_Mutation_p.P86S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3603	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACTCATAAGGAATATTCCAC	0.408000														49			21		0	0	0.012319	0	0
OR10G8	219869	broad.mit.edu	37	11	123900575	123900575	+	Silent	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:123900575T>G	uc001pzp.1	+	0	246	c.246T>G	c.(244-246)acT>acG	p.T82T		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGCTGATGACTTTGGTGTTCC	0.517000														68			26		0	0	0.006320	0	0
FAM163B	642968	broad.mit.edu	37	9	136444264	136444264	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:136444264G>C	uc011mdm.2	-	1	404	c.381C>G	c.(379-381)agC>agG	p.S127R		NM_001080515	NP_001073984	P0C2L3	F163B_HUMAN	Homo sapiens family with sequence similarity 163, member B (FAM163B), mRNA.	127						integral to membrane				large_intestine(1)	1						CGTCCTCCTGGCTCACGCTCT	0.711000														17			5		0	0	0.000602	0	0
T	6862	broad.mit.edu	37	6	166580255	166580255	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:166580255T>C	uc003qut.1	-	1	582	c.296A>G	c.(295-297)aAc>aGc	p.N99S	T_uc003quu.1_Missense_Mutation_p.N99S|T_uc003quv.1_Missense_Mutation_p.N99S	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	99					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCAGCGGTGGTTGTCCGCCGC	0.637000									Chordoma, Familial Clustering of					40			26		0	0	0.004656	0	0
ZNF878	729747	broad.mit.edu	37	19	12155500	12155500	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:12155500G>A	uc021upl.1	-	3	882	c.716C>T	c.(715-717)cCc>cTc	p.P239L	ZNF878_uc002mta.1_Missense_Mutation_p.P286L	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TAACGAACTGGGAGAAAAAAA	0.378000														64			20		0	0	0.008871	0	0
ANAPC1	64682	broad.mit.edu	37	2	112605420	112605420	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:112605420G>A	uc002thi.3	-	14	1920	c.1673C>T	c.(1672-1674)cCa>cTa	p.P558L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	558					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCTCAGTTCTGGAACTGGGGA	0.343000														43			22		0	0	0.002780	0	0
RERE	473	broad.mit.edu	37	1	8418476	8418476	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:8418476G>A	uc001ape.3	-	20	4929	c.4119C>T	c.(4117-4119)ccC>ccT	p.P1373P	RERE_uc001apf.3_Silent_p.P1373P|RERE_uc001apd.3_Silent_p.P819P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1373					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCCTCTCCAAGGGGTTCAGGC	0.692000														20			6		0	0	0.001168	0	0
SLC6A13	6540	broad.mit.edu	37	12	344305	344305	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:344305C>T	uc001qic.2	-	6	872	c.782G>A	c.(781-783)gGa>gAa	p.G261E	SLC6A13_uc009zdj.2_Missense_Mutation_p.G261E|SLC6A13_uc010sdl.2_Missense_Mutation_p.G169E|SLC6A13_uc010sdm.1_Missense_Mutation_p.G142E	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	261					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AAACTGAATTCCTTGGGCTGC	0.557000														45			14		0	0	0.003163	0	0
SHQ1	55164	broad.mit.edu	37	3	72866508	72866508	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:72866508T>A	uc003dpf.3	-	6	862	c.755A>T	c.(754-756)cAg>cTg	p.Q252L	SHQ1_uc010hod.3_Missense_Mutation_p.Q163L	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	252					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TTTTCGTAGCTGATACTTCTC	0.348000														36			8		0	0	0.003080	0	0
SCAND3	114821	broad.mit.edu	37	6	28541106	28541106	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:28541106C>T	uc003nlo.3	-	3	3178	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	854					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cccaacatttccaagcaaact	0.438000														93			31		0	0	0.012213	0	0
MAGI2	9863	broad.mit.edu	37	7	77762378	77762378	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:77762378C>T	uc003ugx.3	-	18	3286	c.3032_splice	c.e18-1	p.E1011_splice	MAGI2_uc003ugy.3_Splice_Site_p.E997_splice|MAGI2_uc010ldx.1_Splice_Site_p.E604_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1011						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGTTGAGCTCTGCGATGGAG	0.597000														49			68		0	0	0.014410	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808199	1808199	+	Silent	SNP	C	T	T	rs151043667	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:1808199C>T	uc003wpr.3	+	3	508	c.330C>T	c.(328-330)ccC>ccT	p.P110P	ARHGEF10_uc003wpq.1_Silent_p.P134P|ARHGEF10_uc003wps.3_Silent_p.P110P|ARHGEF10_uc003wpt.3_Silent_p.P24P|ARHGEF10_uc010lrd.2_Silent_p.P24P|ARHGEF10_uc003wpu.3_Silent_p.P24P	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	134					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCCCCGTGCCCAGCGCTGAGG	0.622000														78			20		0	0	0.007413	0	0
BTBD16	118663	broad.mit.edu	37	10	124034599	124034599	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:124034599G>A	uc001lgc.1	+	1	254	c.3G>A	c.(1-3)atG>atA	p.M1I	BTBD16_uc001lgd.1_5'UTR	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	1										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTTCATTCATGATAATGTCGA	0.378000														49			14		0	0	0.006122	0	0
APOL1	8542	broad.mit.edu	37	22	36661727	36661727	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:36661727A>C	uc003ape.3	+	6	1167	c.893A>C	c.(892-894)gAc>gCc	p.D298A	APOL1_uc011amn.1_Missense_Mutation_p.D159A|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.D159A|APOL1_uc003apf.3_Missense_Mutation_p.D282A|APOL1_uc011amp.2_Missense_Mutation_p.D282A|APOL1_uc011amq.2_Missense_Mutation_p.D264A|APOL1_uc010gwx.3_Missense_Mutation_p.D159A	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	282					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ATTGGGAAGGACATCCGTGCC	0.527000														85			18		0	0	0.007413	0	0
MARCH6	10299	broad.mit.edu	37	5	10390517	10390517	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:10390517G>C	uc003jet.1	+	5	664	c.481G>C	c.(481-483)Gtg>Ctg	p.V161L	MARCH6_uc011cmu.1_Missense_Mutation_p.V113L|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.V56L	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	161					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CATCAGCCTGGTGTGGTTGAG	0.458000														49			17		0	0	0.006122	0	0
GPR123	84435	broad.mit.edu	37	10	134886590	134886590	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr10:134886590C>T	uc001llw.3	+	2	624	c.624C>T	c.(622-624)ctC>ctT	p.L208L				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	246						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGCCATGCTCGTCTGTGAGG	0.672000														8			3		0	0	0.009096	0	0
HSD17B10	3028	broad.mit.edu	37	X	53458992	53458992	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:53458992C>T	uc004dsl.1	-	3	461	c.430G>A	c.(430-432)Gga>Aga	p.G144R	HSD17B10_uc004dsm.1_Missense_Mutation_p.G144R	NM_004493	NP_004484	Q99714	HCD2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	144					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	CGTTGGCCTCCCTGGTCTGGT	0.547000														63			5		0	0	0.001984	0	0
MYO1H	283446	broad.mit.edu	37	12	109844617	109844618	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:109844617_109844618CC>TT	uc010sxn.1	+	7	939_940	c.939_940CC>TT	c.(937-942)gtcctt>gtTTtt	p.L314F		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	62						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ACCCATCAGTCCTTCTGGAAGC	0.455000														76			22		0	0	0.004672	0	0
ANKRD17	26057	broad.mit.edu	37	4	73987424	73987424	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:73987424G>A	uc003hgp.3	-	18	3662	c.3545C>T	c.(3544-3546)tCt>tTt	p.S1182F	ANKRD17_uc003hgo.3_Missense_Mutation_p.S1069F|ANKRD17_uc003hgq.3_Missense_Mutation_p.S931F|ANKRD17_uc003hgr.3_Missense_Mutation_p.S1181F|ANKRD17_uc011cbd.1_Missense_Mutation_p.S747F	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1182					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGTAATCAGAAACATTCCT	0.373000														41			16		0	0	0.004990	0	0
CLDN16	10686	broad.mit.edu	37	3	190122712	190122712	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:190122712G>C	uc003fsi.3	+	2	837	c.589G>C	c.(589-591)Gca>Cca	p.A197P	CLDN16_uc010hze.3_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	197					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTTACTAATAGCAGGTACCGG	0.517000														39			9		0	0	0.006214	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090797	115090797	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:115090797C>T	uc001vuv.3	+	2	1812	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	CHAMP1_uc010tko.2_Missense_Mutation_p.P494S|CHAMP1_uc010ahb.3_Missense_Mutation_p.P494S|CHAMP1_uc021rmx.1_Missense_Mutation_p.P494S	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	494	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ACCTGTCTTCCCTGAGACCCG	0.493000														154			69		0	0	0.014410	0	0
AX746964	0	broad.mit.edu	37	5	140242780	140242780	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:140242780C>T	uc003lhy.1	-	0	445	c.196G>A	c.(196-198)Gac>Aac	p.D66N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		GTGGTGGCGTCGCTGGCGGAG	0.672000														18			6		0	0	0.001168	0	0
ZNF608	57507	broad.mit.edu	37	5	123983396	123983396	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:123983396G>A	uc003ktq.1	-	3	2864	c.2681C>T	c.(2680-2682)cCc>cTc	p.P894L	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.P894L|ZNF608_uc003ktt.1_Missense_Mutation_p.P894L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	894						intracellular	zinc ion binding	p.P894P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGAAGGGCTGGGAGCGTTGTC	0.562000														49			15		0	0	0.002450	0	0
CD163L1	283316	broad.mit.edu	37	12	7521534	7521534	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:7521534G>A	uc010sge.2	-	15	4123	c.4097C>T	c.(4096-4098)tCc>tTc	p.S1366F	CD163L1_uc001qsy.3_Missense_Mutation_p.S1356F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1356						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.S1356F(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TATACCTGAGGAGGCATTCAG	0.443000														61			14		0	0	0.001855	0	0
ASUN	55726	broad.mit.edu	37	12	27068991	27068991	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:27068991C>G	uc001rhk.4	-	10	1729	c.1192G>C	c.(1192-1194)Gat>Cat	p.D398H	ASUN_uc001rhj.4_Missense_Mutation_p.D23H|ASUN_uc010sjk.2_Missense_Mutation_p.D297H	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	398					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GAAGGTGGATCTTCTAGAATG	0.378000														25			14		0	0	0.003163	0	0
IGSF8	93185	broad.mit.edu	37	1	160062370	160062370	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:160062370G>A	uc001fva.3	-	4	1473	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A	IGSF8_uc001fuz.3_Silent_p.A476A|IGSF8_uc009wtf.3_Silent_p.A476A	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	476	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.A476V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACCAGCTGGCGGCCAGCCGCA	0.682000														19			8		0	0	0.006214	0	0
CDH9	1007	broad.mit.edu	37	5	26915882	26915882	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:26915882G>A	uc003jgs.1	-	2	548	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	CDH9_uc010iug.3_Missense_Mutation_p.R127C	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	127	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCTTGGCACGAAGAATGTAC	0.393000														73			35		0	0	0.004878	0	0
PPIG	9360	broad.mit.edu	37	2	170465225	170465225	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:170465225A>G	uc002uez.3	+	6	554	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	PPIG_uc010fpx.3_Missense_Mutation_p.M97V|PPIG_uc010fpy.3_Missense_Mutation_p.M108V|PPIG_uc002ufa.3_Missense_Mutation_p.M112V|PPIG_uc002ufb.3_Missense_Mutation_p.M112V|PPIG_uc002ufc.1_Missense_Mutation_p.M112V|PPIG_uc002ufd.3_Missense_Mutation_p.M112V	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	112	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TCTCTTGTCAATGGCCAACAG	0.358000														28			5		0	0	0.001168	0	0
OR6C4	341418	broad.mit.edu	37	12	55945365	55945365	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:55945365G>A	uc010spp.2	+	0	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D119H(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CATGTCTTATGATCGTTATGT	0.443000														88			31		0	0	0.010818	0	0
RFX6	222546	broad.mit.edu	37	6	117245873	117245873	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:117245873C>T	uc003pxm.3	+	14	1660	c.1597C>T	c.(1597-1599)Ctc>Ttc	p.L533F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	533					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGAATACATTCTCCTGGCCAT	0.363000														60			10		0	0	0.008291	0	0
PROS1	5627	broad.mit.edu	37	3	93615531	93615531	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:93615531A>T	uc003drb.4	-	8	1195	c.854T>A	c.(853-855)gTt>gAt	p.V285D	PROS1_uc010hoo.3_Missense_Mutation_p.V154D|PROS1_uc003dqz.4_Missense_Mutation_p.V154D	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	285					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.V284I(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCACACTGAAACAACCTGGAA	0.353000														101			10		0	0	0.008291	0	0
KLHL7	55975	broad.mit.edu	37	7	23180540	23180540	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:23180540C>G	uc003svs.4	+	4	888	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	KLHL7_uc003svr.4_Missense_Mutation_p.L177V|KLHL7_uc011jys.2_Missense_Mutation_p.L123V|KLHL7_uc011jyt.2_5'UTR|KLHL7_uc003svt.3_Missense_Mutation_p.L151V|KLHL7_uc011jyv.2_5'UTR	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	199						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCAGGACACTCTGACTGTGAG	0.353000														57			19		0	0	0.014323	0	0
RALYL	138046	broad.mit.edu	37	8	85441712	85441712	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:85441712C>T	uc003yct.4	+	1	329	c.195C>T	c.(193-195)tcC>tcT	p.S65S	RALYL_uc003ycq.4_Silent_p.S52S|RALYL_uc003ycr.4_Silent_p.S52S|RALYL_uc003ycs.4_Silent_p.S52S|RALYL_uc010lzy.3_Silent_p.S52S	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	52	RRM.						RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTGGATGTTCCGTTCACAAAG	0.433000														30			12		0	0	0.001855	0	0
ANK1	286	broad.mit.edu	37	8	41525854	41525854	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:41525854C>T	uc003xok.3	-	38	5409	c.5325G>A	c.(5323-5325)agG>agA	p.R1775R	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.R929R|ANK1_uc003xoi.3_Silent_p.R1775R|ANK1_uc003xoj.3_Silent_p.R1775R|ANK1_uc003xol.3_Silent_p.R1613R|ANK1_uc003xom.3_Silent_p.R1816R	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1775	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1775S(2)|p.R1816S(1)|p.R1775K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCTCCGGTCCCTGTCGGCCT	0.622000														57			15		0	0	0.002450	0	0
SMARCC1	6599	broad.mit.edu	37	3	47702787	47702787	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:47702787G>C	uc003crq.2	-	20	2435	c.2317C>G	c.(2317-2319)Ctt>Gtt	p.L773V	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.L664V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	773	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GACTCACCAAGCTTCTCTGGC	0.473000														61			32		0	0	0.006999	0	0
PXDNL	137902	broad.mit.edu	37	8	52321550	52321550	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:52321550C>T	uc003xqu.4	-	16	2735	c.2634G>A	c.(2632-2634)gtG>gtA	p.V878V	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	878					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGACTGAATCCACCGTCGCAG	0.657000														34			11		0	0	0.008291	0	0
CSAD	51380	broad.mit.edu	37	12	53563896	53563896	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:53563896G>A	uc001sby.3	-	8	788	c.662C>T	c.(661-663)cCc>cTc	p.P221L	CSAD_uc001sbw.3_Missense_Mutation_p.P74L|CSAD_uc009zmt.3_Missense_Mutation_p.P3L|CSAD_uc010snx.2_Missense_Mutation_p.P248L|CSAD_uc001sbz.3_Missense_Mutation_p.P221L|CSAD_uc009zmu.3_Missense_Mutation_p.P74L|CSAD_uc021qyd.1_Non-coding_Transcript	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	221					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGATCCTCGGGGACCATTTT	0.527000														58			15		0	0	0.006122	0	0
UPF1	5976	broad.mit.edu	37	19	18965518	18965518	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:18965518G>A	uc002nkg.3	+	9	1573	c.1298_splice	c.e9+1	p.R433_splice	UPF1_uc002nkf.3_Splice_Site_p.R422_splice	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	433					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCCTTTGACAGGTACGTCTTC	0.582000														76			26		0	0	0.003330	0	0
PCDH9	5101	broad.mit.edu	37	13	67799670	67799671	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:67799670_67799671GG>AA	uc001vik.3	-	1	3594_3595	c.2902_2903CC>TT	c.(2902-2904)cct>TTt	p.P968F	PCDH9_uc001vil.3_Missense_Mutation_p.P968F|PCDH9_uc010thl.2_Missense_Mutation_p.P968F|PCDH9_uc001vin.3_Missense_Mutation_p.P968F	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	968					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTGTCCAAAGGGAGTTCCTGA	0.500000														58			27		0	0	0.004672	0	0
VWC2	375567	broad.mit.edu	37	7	49842382	49842382	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:49842382G>A	uc003tot.1	+	2	1328	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	258	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TCCCCAGACGGAGTGTGTGGA	0.567000														35			30		0	0	0.007291	0	0
MN1	4330	broad.mit.edu	37	22	28146960	28146960	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:28146960C>T	uc003adj.3	-	1	4861	c.3906G>A	c.(3904-3906)cgG>cgA	p.R1302R	MN1_uc010gvg.3_Non-coding_Transcript	NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1302							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AATGCAGGGACCGCCAGGTGG	0.597000			T	ETV6	"""AML, meningioma"""									66			27		0	0	0.007291	0	0
ZNF395	55893	broad.mit.edu	37	8	28206337	28206337	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:28206337C>T	uc003xgq.3	-	9	1529	c.1441G>A	c.(1441-1443)Ggg>Agg	p.G481R	ZNF395_uc003xgt.3_Missense_Mutation_p.G481R|ZNF395_uc003xgr.3_Missense_Mutation_p.G481R|ZNF395_uc003xgs.3_Missense_Mutation_p.G481R	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	481					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G481W(2)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TTAGCCTCCCCTCGGGCTTTC	0.627000														45			16		0	0	0.007413	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186103	12186103	+	Missense_Mutation	SNP	C	T	T	rs140319459		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:12186103C>T	uc001atq.3	+	10	1471	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	TNFRSF8_uc010obc.2_Missense_Mutation_p.R306W|TNFRSF8_uc001atr.3_5'UTR|TNFRSF8_uc001ats.3_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	417					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCGAATTCGGCAGAGTAA	0.632000														96			41		0	0	0.008740	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090792	115090792	+	Missense_Mutation	SNP	T	C	C	rs139821586		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr13:115090792T>C	uc001vuv.3	+	2	1807	c.1475T>C	c.(1474-1476)gTc>gCc	p.V492A	CHAMP1_uc010tko.2_Missense_Mutation_p.V492A|CHAMP1_uc010ahb.3_Missense_Mutation_p.V492A|CHAMP1_uc021rmx.1_Missense_Mutation_p.V492A	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	492	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CAGAAACCTGTCTTCCCTGAG	0.502000														157			70		0	0	0.014410	0	0
VASH2	79805	broad.mit.edu	37	1	213146088	213146088	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:213146088T>G	uc001hjy.3	+	4	868	c.664T>G	c.(664-666)Ttt>Gtt	p.F222V	VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Missense_Mutation_p.F157V|VASH2_uc010ptn.2_Missense_Mutation_p.F118V|VASH2_uc001hjw.3_Missense_Mutation_p.F178V	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	222					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GCCATTGACTTTTCGGACTCT	0.498000														30			10		0	0	0.008291	0	0
GPR113	165082	broad.mit.edu	37	2	26533824	26533824	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:26533824C>T	uc002rhe.4	-	10	2772	c.2772G>A	c.(2770-2772)ggG>ggA	p.G924G	GPR113_uc010yky.1_Silent_p.G855G|GPR113_uc002rhb.1_Silent_p.G527G|GPR113_uc010eyk.1_Silent_p.G725G|GPR113_uc002rhc.1_Silent_p.G527G|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	924					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATAACGCCCCTCCCTTCC	0.597000														20			8		0	0	0.006214	0	0
OR2J2	26707	broad.mit.edu	37	6	29141485	29141485	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:29141485G>A	uc011dlm.2	+	0	175	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCCTCAGCTGGAAGTAGTTCT	0.378000														112			28		0	0	0.006320	0	0
ACRC	93953	broad.mit.edu	37	X	70823686	70823686	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:70823686G>A	uc004eae.2	+	7	1060	c.559G>A	c.(559-561)Gat>Aat	p.D187N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	187	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGATGATTCGGATGTTCCCGA	0.493000														201			22		0	0	0.014323	0	0
TADA2A	6871	broad.mit.edu	37	17	35825629	35825629	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:35825629C>T	uc002hnv.3	+	10	1176	c.807C>T	c.(805-807)ttC>ttT	p.F269F	TADA2A_uc002hnt.3_Silent_p.F269F|TADA2A_uc002hnu.1_Silent_p.F269F|TADA2A_uc002hnw.3_Silent_p.F168F	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	269					histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATGACAAATTCATTGAAAGCC	0.413000														49			18		0	0	0.008871	0	0
PBX4	80714	broad.mit.edu	37	19	19681003	19681003	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:19681003C>T	uc002nmy.3	-	3	834	c.547G>A	c.(547-549)Ggc>Agc	p.G183S	PBX4_uc010xra.2_Missense_Mutation_p.G18S|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	183							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CTGAACTTGCCGTGAATGGCG	0.607000														49			11		0	0	0.010729	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4412725	4412725	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr16:4412725G>A	uc002cwf.3	-	14	1733	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.S210S|CORO7-PAM16_uc002cwh.4_Silent_p.S430S|CORO7-PAM16_uc010uxh.2_Silent_p.S412S|CORO7-PAM16_uc010uxi.2_Silent_p.S345S|CORO7-PAM16_uc002cwi.1_Silent_p.S210S|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Silent_p.S210S	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		AACTGGGAGGGGAAGAGAAAC	0.667000														12			4		0	0	0.009096	0	0
AASDH	132949	broad.mit.edu	37	4	57219614	57219614	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:57219614G>A	uc003hbn.3	-	8	1685	c.1532C>T	c.(1531-1533)cCg>cTg	p.P511L	AASDH_uc010ihb.3_Missense_Mutation_p.P26L|AASDH_uc003hbo.3_Missense_Mutation_p.P411L|AASDH_uc011caa.2_Missense_Mutation_p.P358L|AASDH_uc011cab.2_Missense_Mutation_p.P26L|AASDH_uc010ihc.3_Missense_Mutation_p.P511L|AASDH_uc003hbp.3_Missense_Mutation_p.P511L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	511					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAGCTCATCCGGGACTGCATG	0.338000														36			4		0	0	0.009096	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011584	46011584	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr21:46011584C>T	uc002zfm.3	-	0	803	c.782G>A	c.(781-783)tGc>tAc	p.C261Y	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	261	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGAGGAGGTGCAGCAAGCTGG	0.647000														131			39		0	0	0.009718	0	0
PLEC	5339	broad.mit.edu	37	8	144997325	144997325	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr8:144997325C>G	uc003zaf.1	-	30	7353	c.7183G>C	c.(7183-7185)Gac>Cac	p.D2395H	PLEC_uc003zab.1_Missense_Mutation_p.D2258H|PLEC_uc003zac.1_Missense_Mutation_p.D2262H|PLEC_uc003zad.2_Missense_Mutation_p.D2258H|PLEC_uc003zae.1_Missense_Mutation_p.D2226H|PLEC_uc003zag.1_Missense_Mutation_p.D2236H|PLEC_uc003zah.2_Missense_Mutation_p.D2244H|PLEC_uc003zaj.2_Missense_Mutation_p.D2285H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2395	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGTCCTTGTCACGCAAGATG	0.637000														33			7		0	0	0.001984	0	0
REG1B	5968	broad.mit.edu	37	2	79314027	79314027	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:79314027G>A	uc002sny.2	-	2	206	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	REG1B_uc010ffv.1_Missense_Mutation_p.P32S|REG1B_uc010ffw.3_Missense_Mutation_p.P32S	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	32					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTGATTCGGGGATTAGGCAGC	0.493000														95			37		0	0	0.006999	0	0
YLPM1	56252	broad.mit.edu	37	14	75283808	75283808	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:75283808G>C	uc001xqj.4	+	13	5984	c.5860G>C	c.(5860-5862)Gag>Cag	p.E1954Q	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.E437Q	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1759					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAAGGGATTTGAGGTAGAAGC	0.358000														21			6		0	0	0.001168	0	0
PAGE2B	389860	broad.mit.edu	37	X	55116530	55116530	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:55116530C>T	uc004duf.1	+	1	125	c.77C>T	c.(76-78)tCt>tTt	p.S26F	PAGE2B_uc022bxk.1_Intron	NM_207339	NP_997222	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2 (prostate associated) (PAGE2), mRNA.	26										lung(3)	3						CCGGTTGGATCTGTGATTGTG	0.353000														35			5		0	0	0.001168	0	0
AFF2	2334	broad.mit.edu	37	X	148068951	148068951	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chrX:148068951G>A	uc004fcp.3	+	19	4157	c.3678G>A	c.(3676-3678)ggG>ggA	p.G1226G	AFF2_uc004fcq.3_Silent_p.G1216G|AFF2_uc004fcr.3_Silent_p.G1187G|AFF2_uc011mxb.2_Silent_p.G1191G|AFF2_uc004fcs.3_Silent_p.G1191G|AFF2_uc011mxc.2_Silent_p.G867G	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1226					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACGCAATGGGGAACTGTAACA	0.522000														111			16		0	0	0.008871	0	0
CD163L1	283316	broad.mit.edu	37	12	7527496	7527496	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:7527496G>A	uc010sge.2	-	11	3081	c.3055C>T	c.(3055-3057)Cca>Tca	p.P1019S	CD163L1_uc001qsy.3_Missense_Mutation_p.P1009S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1009						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCGAGGCATGGAAACAGTGGC	0.458000														50			15		0	0	0.004990	0	0
TMEM156	80008	broad.mit.edu	37	4	38995373	38995373	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:38995373C>T	uc003gto.3	-	2	712	c.604G>A	c.(604-606)Gag>Aag	p.E202K	TMEM156_uc010ifj.3_Missense_Mutation_p.E202K	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	202						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATATCCATCTCTAGGTGCAAA	0.333000														38			12		0	0	0.010729	0	0
KRT24	192666	broad.mit.edu	37	17	38854842	38854842	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:38854842C>T	uc002hvd.3	-	6	1479	c.1422G>A	c.(1420-1422)agG>agA	p.R474R		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	474	Tail.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ATACCAGATCCCTGGATCCCA	0.373000														101			69		0	0	0.014410	0	0
SLC35B4	84912	broad.mit.edu	37	7	133981163	133981163	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr7:133981163G>A	uc003vrn.3	-	8	1053	c.729C>T	c.(727-729)ctC>ctT	p.L243L	SLC35B4_uc010lmk.3_Silent_p.L107L	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA.	243						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TGTTCATGAGGAGGTAGAACC	0.438000														16			18		0	0	0.010504	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278210	47278210	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:47278210A>C	uc001cqn.4	+	3	494	c.410A>C	c.(409-411)cAc>cCc	p.H137P	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.H137P|CYP4B1_uc009vym.3_Missense_Mutation_p.H122P|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	137					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGTTGCAGCACCGCAAGCTG	0.602000														37			8		0	0	0.003080	0	0
VCAN	1462	broad.mit.edu	37	5	82837484	82837484	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:82837484G>C	uc003kii.3	+	7	9018	c.8662G>C	c.(8662-8664)Gag>Cag	p.E2888Q	VCAN_uc003kij.3_Missense_Mutation_p.E1901Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1552Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2888	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCACATAACTGAGCCTCCCTC	0.388000														43			14		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	107062359	107062359	+	RNA	SNP	G	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:107062359G>T	uc021ser.1	-	150		c.6627C>A								Parts of antibodies, mostly variable regions.																		AGACAGCGCAGATGAGGGACA	0.607000														57			6		0.000157383	0.000190447	0.003080	1	0
SFTPB	6439	broad.mit.edu	37	2	85892783	85892783	+	Silent	SNP	G	A	A	rs147209702		TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:85892783G>A	uc002sqj.3	-	5	664	c.564C>T	c.(562-564)ctC>ctT	p.L188L	SFTPB_uc002sqi.3_Silent_p.L188L|SFTPB_uc002sqh.3_Silent_p.L188L	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	176					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGGGAGGACGAGCTTGTCCA	0.667000														49			13		0	0	0.001855	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431165	56431165	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:56431165G>A	uc010rjm.2	+	0	4	c.4G>A	c.(4-6)Gat>Aat	p.D2N	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGAAGCAATGGATAAAGAAAA	0.393000														45			15		0	0	0.003163	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392580	22392580	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:22392580G>A	uc010aiz.2	+	1	178	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_5'Flank					SubName: Full=HADV14S1; Flags: Fragment;																		GTTCGTGCAGGAAAAGGAGGC	0.428000														38			14		0	0	0.001855	0	0
KDM3B	51780	broad.mit.edu	37	5	137766083	137766083	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:137766083C>T	uc003lcy.1	+	21	5239	c.5039C>T	c.(5038-5040)gCt>gTt	p.A1680V	KDM3B_uc010jew.1_Missense_Mutation_p.A1336V|KDM3B_uc011cys.1_Missense_Mutation_p.A712V	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1680	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTAGGTGATGCTGTTTTCATA	0.512000														98			29		0	0	0.008361	0	0
TXNL1	9352	broad.mit.edu	37	18	54291641	54291641	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr18:54291641G>A	uc002lgg.3	-	2	846	c.247C>T	c.(247-249)Cga>Tga	p.R83*	TXNL1_uc010xdz.2_Non-coding_Transcript|TXNL1_uc002lgh.3_Non-coding_Transcript|TXNL1_uc002lgi.3_Nonsense_Mutation_p.R83*|TXNL1_uc002lgj.1_Nonsense_Mutation_p.R83*	NM_004786	NP_004777	O43396	TXNL1_HUMAN	Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA.	83	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ACTTTGTTTCGAAAAAACAAA	0.373000														106			34		0	0	0.003755	0	0
GLB1	2720	broad.mit.edu	37	3	33058329	33058329	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr3:33058329G>A	uc011axk.1	-	14	1612	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	GLB1_uc003cfh.1_Missense_Mutation_p.P421S|GLB1_uc003cfi.1_Missense_Mutation_p.P451S|GLB1_uc003cfj.1_Missense_Mutation_p.P320S	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	451					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ACTCCCTGGGGGATCTGTGGG	0.478000														38			25		0	0	0.002780	0	0
COL12A1	1303	broad.mit.edu	37	6	75899338	75899338	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:75899338C>T	uc021zbv.1	-	4	623	c.588G>A	c.(586-588)caG>caA	p.Q196Q	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.Q196Q|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	196	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTGGTAGTACTGATTTAAGT	0.358000														61			12		0	0	0.013537	0	0
CRY2	1408	broad.mit.edu	37	11	45891260	45891260	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:45891260C>T	uc010rgn.2	+	6	1171	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	CRY2_uc009ykw.3_Silent_p.I301I|CRY2_uc010rgo.2_Silent_p.I105I	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	362	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TTGATGCCATCATGACCCAAC	0.652000														88			20		0	0	0.012319	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050146	42050146	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:42050146C>T	uc001cgz.4	-	3	1536	c.323G>A	c.(322-324)gGc>gAc	p.G108D	HIVEP3_uc001cha.4_Missense_Mutation_p.G108D|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	108					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCAGGTTTGCCAGGCGACAT	0.622000														128			33		0	0	0.013726	0	0
HERC3	8916	broad.mit.edu	37	4	89588561	89588561	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr4:89588561C>T	uc003hrw.1	+	12	1531	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	HERC3_uc011cdn.1_Silent_p.I337I|HERC3_uc011cdo.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	455					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GTCCCAAAATCCCTGGGATTG	0.313000														26			13		0	0	0.004007	0	0
TAL2	6887	broad.mit.edu	37	9	108424991	108424991	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:108424991G>A	uc004bct.3	+	0	254	c.214G>A	c.(214-216)Ggg>Agg	p.G72R		NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										GGCTGCTCAGGGGAACATTCT	0.547000			T	TRB@	T-ALL									36			18		0	0	0.010504	0	0
KLK6	5653	broad.mit.edu	37	19	51470570	51470571	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:51470570_51470571CC>TT	uc002puh.3	-	1	143_144	c.78_79GG>AA	c.(76-81)gaggag>gaAAag	p.E27K	KLK6_uc010eoj.3_Missense_Mutation_p.E18K|KLK6_uc002pui.3_Missense_Mutation_p.E18K|KLK6_uc002puj.3_5'UTR|KLK6_uc010ycn.2_Intron|KLK6_uc002pul.3_Missense_Mutation_p.E18K|KLK6_uc002pum.3_Intron	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	18	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTATTCTGCTCCTCTGCCCAGG	0.564000														29			15		0	0	0.004672	0	0
OR13C4	138804	broad.mit.edu	37	9	107288807	107288807	+	Silent	SNP	C	T	T	rs141274906	by1000genomes	TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr9:107288807C>T	uc011lvn.2	-	0	684	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGGCCGAGTTCGTTCGCAAGA	0.408000														88			27		0	0	0.005443	0	0
CECR2	27443	broad.mit.edu	37	22	17976561	17976561	+	Silent	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr22:17976561C>T	uc010gqw.1	+	1	222	c.222C>T	c.(220-222)atC>atT	p.I74I	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	116					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGTGGAGATCCTGCACCGAC	0.542000														65			43		0	0	0.014410	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114015	117114015	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr6:117114015C>T	uc003pxj.1	-	5	2093	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	GPRC6A_uc003pxk.1_Missense_Mutation_p.D516N|GPRC6A_uc003pxl.1_Missense_Mutation_p.D620N	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	691					response to amino acid stimulus		G-protein coupled receptor activity	p.D691E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATTTGGGATCAAAGCTGAAG	0.418000														33			7		0	0	0.004482	0	0
ASPG	374569	broad.mit.edu	37	14	104571026	104571026	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:104571026C>T	uc001yop.2	+	8	1089	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	ASPG_uc001yoo.2_Missense_Mutation_p.S363L|ASPG_uc001yoq.2_Missense_Mutation_p.S335L|ASPG_uc001yor.2_Missense_Mutation_p.S335L	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	335	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.S335L(2)|p.S363L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCAAGCTATCGTATGTGCTG	0.662000														25			9		0	0	0.006214	0	0
SLC4A10	57282	broad.mit.edu	37	2	162815020	162815020	+	Nonsense_Mutation	SNP	T	G	G			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr2:162815020T>G	uc002ubx.4	+	20	3001	c.2817T>G	c.(2815-2817)taT>taG	p.Y939*	SLC4A10_uc010zcs.2_Nonsense_Mutation_p.Y920*|SLC4A10_uc002uby.4_Nonsense_Mutation_p.Y909*	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	939					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGCTATATGGAGTGTTTC	0.348000														32			7		0	0	0.003080	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788040	65788040	+	Silent	SNP	G	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr11:65788040G>A	uc001ogt.3	-	6	2124	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	662					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTCACTTGAGGAAGATGAAGT	0.592000														27			10		0	0	0.006214	0	0
ADAM21	8747	broad.mit.edu	37	14	70925765	70925765	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr14:70925765A>T	uc021rvq.1	+	0	1549	c.1549A>T	c.(1549-1551)Att>Ttt	p.I517F	ADAM21_uc001xmd.3_Missense_Mutation_p.I517F	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	517	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTGCAGGGAGATTTTTGGTAA	0.418000														48			6		0	0	0.006214	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036435	21036435	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr12:21036435T>A	uc010sil.2	+	10	1646	c.1581T>A	c.(1579-1581)gaT>gaA	p.D527E	SLCO1B3_uc001rek.3_Missense_Mutation_p.D527E|SLCO1B3_uc001rel.3_Missense_Mutation_p.D527E|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	527					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCCCAAGAGATAATACTTGTA	0.358000														35			17		0	0	0.006122	0	0
RARA	5914	broad.mit.edu	37	17	38508593	38508593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:38508593C>T	uc021txb.1	+	4	1003	c.641C>T	c.(640-642)tCa>tTa	p.S214L	RARA_uc002huk.2_Missense_Mutation_p.S214L|RARA_uc002hul.4_Missense_Mutation_p.S214L|RARA_uc010wfe.2_Missense_Mutation_p.S117L|RARA_uc002hun.2_Missense_Mutation_p.S209L	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	214	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AACAACAGCTCAGAACAACGT	0.582000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL									58			30		0	0	0.008361	0	0
CASZ1	54897	broad.mit.edu	37	1	10720200	10720200	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr1:10720200delA	uc001aro.3	-	5	1219	c.899delT	c.(898-900)gtcfs	p.V300fs	CASZ1_uc001arp.1_Frame_Shift_Del_p.V300fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.V324fs|CASZ1_uc001arq.1_Frame_Shift_Del_p.V159fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTGCATCTGGACACTGCTGTG	0.647													---	141	---	---	32	---					
NAIP	4671	broad.mit.edu	37	5	70406506	70406507	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr5:70406506_70406507delAT	uc003kat.1	-	0	1357_1358	c.91_92delAT	c.(91-93)atgfs	p.M31fs	DQ570835_uc021yai.1_Non-coding_Transcript	NM_022892	NP_075043	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA.	419					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAGCAAAGACATGTGGCGGAAA	0.500													---	8	---	---	4	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr17:45247389delT	uc002ile.4	-	3	398	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_uc002ild.4_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													---	166	---	---	7	---					
C19orf44	84167	broad.mit.edu	37	19	16620727	16620727	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:16620727delG	uc002neh.1	+	4	1640	c.1567delG	c.(1567-1569)gtgfs	p.V523fs	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Frame_Shift_Del_p.V523fs|C19orf44_uc002neg.3_Frame_Shift_Del_p.V523fs|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	523										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GGGCAGGCACGTGACAAGAGT	0.562													---	75	---	---	16	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	-	-			TCGA-ER-A2NG-06A-11D-A196-08	TCGA-ER-A2NG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf0b46af-6a2d-4462-b929-32490ec0f6e3	547c80f8-2b47-42fb-80dc-e98733dd9830	g.chr19:45911859_45911861delGAA	uc002pbr.1	+	2	645_647	c.639_641delGAA	c.(637-642)cggaag>cgg	p.K219del	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	217					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													---	165	---	---	9	---					
