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
DNAJC11	55735	broad.mit.edu	37	1	6705885	6705885	+	Silent	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:6705885T>C	uc001aof.2	-	7	964	c.858A>G	c.(856-858)cgA>cgG	p.R286R	DNAJC11_uc001aog.2_Silent_p.R286R|DNAJC11_uc010nzu.1_Silent_p.R196R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	286					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTAGTGTCTCGGACGATGC	0.587												
NPPA	4878	broad.mit.edu	37	1	11907662	11907662	+	Missense_Mutation	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907662G>C	uc001ati.3	-	0	179	c.80C>G	c.(79-81)cCc>cGc	p.P27R	CLCN6_uc010oba.1_Non-coding_Transcript|CLCN6_uc010oav.1_Non-coding_Transcript|CLCN6_uc010oay.1_Non-coding_Transcript|CLCN6_uc010oax.1_Non-coding_Transcript|CLCN6_uc010oaw.1_Non-coding_Transcript|CLCN6_uc010oaz.1_Non-coding_Transcript	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	27					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTACATGGGATTAGCTCT	0.567												
NPPA	4878	broad.mit.edu	37	1	11907712	11907712	+	Missense_Mutation	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907712G>C	uc001ati.3	-	0	129	c.30C>G	c.(28-30)agC>agG	p.S10R		NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	10					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGAGGAAGCTCACGGTGG	0.557												
ADC	113451	broad.mit.edu	37	1	33583641	33583641	+	Missense_Mutation	SNP	T	T	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:33583641T>A	uc009vug.3	+	7	1300	c.1228T>A	c.(1228-1230)Tac>Aac	p.Y410N	ADC_uc001bwr.3_Missense_Mutation_p.Y390N|ADC_uc001bws.3_Missense_Mutation_p.Y390N|ADC_uc009vue.3_Missense_Mutation_p.Y390N|ADC_uc001bwt.1_Missense_Mutation_p.Y295N|ADC_uc001bwu.3_Missense_Mutation_p.Y295N|ADC_uc001bwv.3_Missense_Mutation_p.Y295N|ADC_uc001bwx.1_Missense_Mutation_p.Y367N	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	390					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CATGGGCGCCTACACTGTGGG	0.632												
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413												
FLG	2312	broad.mit.edu	37	1	152285965	152285965	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:152285965C>A	uc001ezu.1	-	2	1433	c.1397G>T	c.(1396-1398)gGg>gTg	p.G466V	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	466	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGGAAGACCCTGAACGTCC	0.607									Ichthyosis			
AQP10	89872	broad.mit.edu	37	1	154293715	154293715	+	Silent	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:154293715T>C	uc001feu.3	+	0	124	c.84T>C	c.(82-84)ttT>ttC	p.F28F		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	28					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAGAGTTTCTGGGTGTGT	0.552												
EFNA3	1944	broad.mit.edu	37	1	155058900	155058900	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:155058900G>A	uc001fhf.3	+	4	668	c.598G>A	c.(598-600)Gga>Aga	p.G200R	EFNA3_uc010pew.2_Missense_Mutation_p.G195R|EFNA3_uc010pex.2_Missense_Mutation_p.G174R	NM_004952	NP_004943	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A3 (EFNA3), mRNA.	200					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGACTTTGAGGGAGAGAACCC	0.632											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AIM2	9447	broad.mit.edu	37	1	159043117	159043117	+	Missense_Mutation	SNP	G	G	A	rs149324922		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:159043117G>A	uc001ftj.1	-	1	418	c.173C>T	c.(172-174)gCg>gTg	p.A58V		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	58	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGCAGACACCGCCCCAGCATT	0.393												
SHCBP1L	81626	broad.mit.edu	37	1	182908331	182908331	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:182908331C>G	uc001gpu.3	-	4	1341	c.1056G>C	c.(1054-1056)atG>atC	p.M352I	SHCBP1L_uc001gpv.3_Missense_Mutation_p.M233I|SHCBP1L_uc010pnz.2_Missense_Mutation_p.M210I|SHCBP1L_uc001gpw.3_Missense_Mutation_p.M72I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	424										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATCTTCCCACATTTTCAGTA	0.338												
TLR5	7100	broad.mit.edu	37	1	223285929	223285929	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:223285929G>A	uc021pjl.1	-	0	445	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	TLR5_uc001hnv.2_Missense_Mutation_p.R149C|TLR5_uc001hnw.2_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	149					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368												
CUBN	8029	broad.mit.edu	37	10	16873370	16873370	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:16873370C>T	uc001ioo.3	-	64	10461	c.10409G>A	c.(10408-10410)tGt>tAt	p.C3470Y		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3470	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGAGTTCCACAGTACTTGCC	0.368												
ARMC3	219681	broad.mit.edu	37	10	23287264	23287264	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:23287264G>A	uc001irm.4	+	10	1446	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	ARMC3_uc010qcv.2_Missense_Mutation_p.V455M|ARMC3_uc010qcw.2_Missense_Mutation_p.V192M	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	455							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACACAGTCGTGCAGAGCAA	0.498												
DUX4L3	653544	broad.mit.edu	37	10	135491100	135491100	+	Silent	SNP	G	G	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:135491100G>T	uc021qbj.1	+						DUX4L3_uc010qvh.1_Silent_p.S237S|DUX4L3_uc021qbi.1_5'UTR	NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN	Homo sapiens double homeobox 2 (DUX2), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CTGCTCCCTCGTGGGTCGCCT	0.761												
MICAL2	9645	broad.mit.edu	37	11	12261088	12261088	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr11:12261088G>A	uc001mjz.3	+	16	2458	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	MICAL2_uc010rch.1_Missense_Mutation_p.A724T|MICAL2_uc001mka.3_Missense_Mutation_p.A724T|MICAL2_uc010rci.2_Missense_Mutation_p.A724T|MICAL2_uc001mkb.3_Missense_Mutation_p.A724T|MICAL2_uc001mkc.3_Missense_Mutation_p.A724T|MICAL2_uc001mkd.3_Missense_Mutation_p.A553T|MICAL2_uc010rcj.2_Missense_Mutation_p.A126T|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	724						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAGCTGCTGGCCAAGTTTGA	0.493												
ABCC9	10060	broad.mit.edu	37	12	21954093	21954093	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:21954093G>A	uc001rfh.3	-	37	4555	c.4535C>T	c.(4534-4536)aCg>aTg	p.T1512M		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1512	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGTCTGCCGTCAGAATAGT	0.383												
OR6C75	390323	broad.mit.edu	37	12	55758950	55758950	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:55758950C>T	uc010spk.2	+	0	56	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACAAGTGACCCACAGTGGCAG	0.363												
CUX2	23316	broad.mit.edu	37	12	111742051	111742051	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:111742051G>A	uc001tsa.2	+	9	945	c.791G>A	c.(790-792)cGg>cAg	p.R264Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAAGTCTCCGGGAACAGCTG	0.652												
LCP1	3936	broad.mit.edu	37	13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr13:46718596G>A	uc001vaz.4	-	10	1360	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_uc010ack.3_5'Flank|LCP1_uc001vay.4_Nonsense_Mutation_p.R9*|LCP1_uc001vba.4_Nonsense_Mutation_p.R412*	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	412	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL							
RGS6	9628	broad.mit.edu	37	14	72943451	72943451	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr14:72943451C>G	uc001xna.4	+	11	1217	c.694_splice	c.e11-1	p.S232_splice	RGS6_uc021rvv.1_Splice_Site_p.S197_splice|RGS6_uc010ttn.2_Splice_Site_p.S232_splice|RGS6_uc021rvw.1_Splice_Site_p.S232_splice|RGS6_uc021rvx.1_Splice_Site_p.S232_splice|RGS6_uc021rvy.1_Splice_Site_p.S232_splice|RGS6_uc021rvz.1_Splice_Site_p.S232_splice|RGS6_uc001xmy.4_Splice_Site_p.S232_splice|RGS6_uc010tto.2_Splice_Site|RGS6_uc001xmx.4_Splice_Site_p.S232_splice|RGS6_uc021rwa.1_Splice_Site_p.S232_splice|RGS6_uc021rwb.1_Splice_Site_p.S232_splice|RGS6_uc010ttp.1_Splice_Site_p.S163_splice|RGS6_uc021rwc.1_Splice_Site_p.S93_splice	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	232					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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCTCCTAGTCCGTGTATGGC	0.517												
CCPG1	9236	broad.mit.edu	37	15	55652658	55652658	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:55652658A>G	uc010bfk.2	-	7	1612	c.1313T>C	c.(1312-1314)cTa>cCa	p.L438P	CCPG1_uc002acy.3_Missense_Mutation_p.L438P|CCPG1_uc002acu.2_Missense_Mutation_p.L294P|CCPG1_uc002acz.2_Missense_Mutation_p.L438P|CCPG1_uc002acw.2_Missense_Mutation_p.L163P|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Missense_Mutation_p.L438P|CCPG1_uc021smu.1_Missense_Mutation_p.L58P	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	438					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCGAAGGTTAGCTTCCGTTC	0.413												
POLG	5428	broad.mit.edu	37	15	89876416	89876416	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:89876416G>A	uc002bns.4	-	1	852	c.570C>T	c.(568-570)ccC>ccT	p.P190P	POLG_uc002bnr.4_Silent_p.P190P|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	190					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCCGCTCCTCGGGGATGGCCA	0.711								DNA polymerases (catalytic subunits)				
IFT140	9742	broad.mit.edu	37	16	1574572	1574572	+	Missense_Mutation	SNP	T	T	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:1574572T>A	uc002cmb.3	-	23	3484	c.3122A>T	c.(3121-3123)aAt>aTt	p.N1041I	IFT140_uc002clz.3_Missense_Mutation_p.N654I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1041										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCGGATGGCATTCTTGAAGGC	0.652												
ZNF768	79724	broad.mit.edu	37	16	30535896	30535897	+	Missense_Mutation	DNP	AA	AA	GC			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30535896_30535897AA>GC	uc002dyk.4	-	1	1740_1741	c.1564_1565TT>GC	c.(1564-1566)ttc>GCc	p.F522A	ZNF768_uc010vex.2_Missense_Mutation_p.F491A|ZNF768_uc010vew.2_Missense_Mutation_p.F491A	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	522					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGGAGAAGGCCTTTCCG	0.678												
ZNF629	23361	broad.mit.edu	37	16	30795519	30795519	+	Missense_Mutation	SNP	T	T	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30795519T>G	uc002dzs.1	-	2	338	c.130A>C	c.(130-132)Atc>Ctc	p.I44L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCATGATGATCTCCTCCCCA	0.577												
PKD1L2	114780	broad.mit.edu	37	16	81151072	81151072	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:81151072G>A	uc002fgh.1	-	40	6671	c.6671C>T	c.(6670-6672)gCc>gTc	p.A2224V	PKD1L2_uc002fgf.1_Missense_Mutation_p.A26V|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2226					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGATGATGGCCAGCTCCAG	0.612												
NF1	4763	broad.mit.edu	37	17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29527568_29527569delCT	uc002hgg.3	+	8	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.N339fs	NF1_uc002hge.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N339fs|NF1_uc010csn.2_Frame_Shift_Del_p.N199fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	339					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
NF1	4763	broad.mit.edu	37	17	29684388	29684391	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29684388_29684391delGTAA	uc002hgg.3	+	54	8353	c.7970_splice	c.e54+1	p.V2657_splice	NF1_uc002hgh.3_Splice_Site_p.V2636_splice|NF1_uc010cso.3_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2657					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCCTGTTGTGTAAGTATCTCCTT	0.377			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRT31	3881	broad.mit.edu	37	17	39550299	39550299	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:39550299C>T	uc002hwn.3	-	6	1273	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	407	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.P406A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGCCCACAGCGGGGGCGTGG	0.632												
LAMA1	284217	broad.mit.edu	37	18	6985300	6985300	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:6985300C>T	uc002knm.3	-	38	5690	c.5596G>A	c.(5596-5598)Gac>Aac	p.D1866N	LAMA1_uc010wzj.2_Missense_Mutation_p.D1342N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1866	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGACCAGGTCGACTGCGTTC	0.507												
EPG5	57724	broad.mit.edu	37	18	43488003	43488003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:43488003G>A	uc002lbm.3	-	23	4349	c.4249C>T	c.(4249-4251)Caa>Taa	p.Q1417*	EPG5_uc002lbo.1_Nonsense_Mutation_p.Q1417*|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Nonsense_Mutation_p.Q292*	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1417					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTCCTTTTTGAAAATTCTCA	0.328												
ME2	4200	broad.mit.edu	37	18	48450505	48450505	+	Missense_Mutation	SNP	T	T	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:48450505T>G	uc002ley.3	+	10	1353	c.1094T>G	c.(1093-1095)tTt>tGt	p.F365C	ME2_uc010dpd.3_Missense_Mutation_p.F365C	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	365					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CAGGAACCATTTACTCACTCA	0.313												
ZNF350	59348	broad.mit.edu	37	19	52472376	52472376	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:52472376T>C	uc002pyd.3	-	2	252	c.24A>G	c.(22-24)atA>atG	p.I8M	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	8	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTCCAGTGTTATGGATTCCT	0.453												
PEG3	5178	broad.mit.edu	37	19	57327924	57327924	+	Missense_Mutation	SNP	C	C	G	rs140555816	by1000genomes	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327924C>G	uc002qnu.2	-	6	2237	c.1886G>C	c.(1885-1887)tGt>tCt	p.C629S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C600S|PEG3_uc002qnv.2_Missense_Mutation_p.C629S|PEG3_uc002qnw.2_Missense_Mutation_p.C505S|PEG3_uc002qnx.2_Missense_Mutation_p.C503S|PEG3_uc010etr.2_Missense_Mutation_p.C629S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	629					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACACACCTTACATTCGTACAT	0.443												
PEG3	5178	broad.mit.edu	37	19	57327945	57327945	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327945C>G	uc002qnu.2	-	6	2216	c.1865G>C	c.(1864-1866)gGt>gCt	p.G622A	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G593A|PEG3_uc002qnv.2_Missense_Mutation_p.G622A|PEG3_uc002qnw.2_Missense_Mutation_p.G498A|PEG3_uc002qnx.2_Missense_Mutation_p.G496A|PEG3_uc010etr.2_Missense_Mutation_p.G622A	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	622					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y621Y(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCTCTTTACCATACATTTT	0.443												
PEG3	5178	broad.mit.edu	37	19	57328102	57328102	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328102C>G	uc002qnu.2	-	6	2059	c.1708G>C	c.(1708-1710)Gaa>Caa	p.E570Q	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E541Q|PEG3_uc002qnv.2_Missense_Mutation_p.E570Q|PEG3_uc002qnw.2_Missense_Mutation_p.E446Q|PEG3_uc002qnx.2_Missense_Mutation_p.E444Q|PEG3_uc010etr.2_Missense_Mutation_p.E570Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	570					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGAAGGTTTCCTTACACACC	0.448												
PEG3	5178	broad.mit.edu	37	19	57328544	57328544	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328544C>G	uc002qnu.2	-	6	1617	c.1266G>C	c.(1264-1266)atG>atC	p.M422I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M393I|PEG3_uc002qnv.2_Missense_Mutation_p.M422I|PEG3_uc002qnw.2_Missense_Mutation_p.M298I|PEG3_uc002qnx.2_Missense_Mutation_p.M296I|PEG3_uc010etr.2_Missense_Mutation_p.M422I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	422					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E421E(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGCTTTTCTCATCTCACTAC	0.493												
DHX57	90957	broad.mit.edu	37	2	39088222	39088222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:39088222delA	uc002rrf.3	-	4	1429	c.1330delT	c.(1330-1332)tctfs	p.S444fs	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Frame_Shift_Del_p.S444fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	444							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTGGTCCTAGAGGGTACTGGC	0.378												
SEMA4F	10505	broad.mit.edu	37	2	74902997	74902997	+	Missense_Mutation	SNP	G	G	A	rs146294784		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:74902997G>A	uc002sna.1	+	11	1715	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	SEMA4F_uc010ffq.1_Missense_Mutation_p.R502Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snb.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snc.1_Missense_Mutation_p.R380Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	535	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGGAGCTTCCGGCTGGATGAG	0.587												
KYNU	8942	broad.mit.edu	37	2	143713833	143713833	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:143713833C>A	uc010fnm.3	+	6	713	c.497C>A	c.(496-498)cCt>cAt	p.P166H	KYNU_uc002tvk.3_Missense_Mutation_p.P166H|KYNU_uc002tvl.3_Missense_Mutation_p.P166H	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	166	Pyridoxal phosphate binding.				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.P166L(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AAAGCCTTCCCTTCTGATCAT	0.343												
SPC25	57405	broad.mit.edu	37	2	169728042	169728042	+	Missense_Mutation	SNP	C	C	T	rs146133605	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:169728042C>T	uc002uel.3	-	6	705	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	192	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						GCTAGGCCCTCAAGATGAGGG	0.338												
LRP2	4036	broad.mit.edu	37	2	170050292	170050292	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:170050292C>T	uc002ues.3	-	46	9022	c.8809G>A	c.(8809-8811)Gag>Aag	p.E2937K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2937	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTTATCCTCGTCACTCATA	0.473												
SLC12A5	57468	broad.mit.edu	37	20	44669236	44669236	+	Silent	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:44669236C>T	uc010zxl.1	+	6	982	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SLC12A5_uc002xra.2_Silent_p.F279F|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F279F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	302					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTCTGCCTTCGACCCACCCA	0.557												
STAU1	6780	broad.mit.edu	37	20	47734907	47734907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:47734907delG	uc002xud.3	-	9	1563	c.1152delC	c.(1150-1152)accfs	p.T384fs	STAU1_uc002xua.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xub.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xuc.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xue.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xuf.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xug.3_Frame_Shift_Del_p.T384fs	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	384				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTCAAAAAAGGTTACTTTTC	0.388												
KCNB1	3745	broad.mit.edu	37	20	47989844	47989844	+	Silent	SNP	A	A	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:47989844A>C	uc002xur.1	-	1	2419	c.2253T>G	c.(2251-2253)ggT>ggG	p.G751G	KCNB1_uc002xus.1_Silent_p.G751G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	751					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.G751G(4)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTGGTGGACACCCGCCTCAA	0.572												
GPD1L	23171	broad.mit.edu	37	3	32180198	32180198	+	Silent	SNP	G	G	A	rs149167213		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:32180198G>A	uc003cew.3	+	2	546	c.345G>A	c.(343-345)gcG>gcA	p.A115A		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	115					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						CCAAGAAAGCGCTGGGAATCA	0.502												
RUVBL1	8607	broad.mit.edu	37	3	127806571	127806571	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:127806571T>C	uc003ekh.3	-	8	1201	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C	RUVBL1_uc003ekf.3_Missense_Mutation_p.Y306C|RUVBL1_uc010hss.3_Missense_Mutation_p.Y366C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.	366					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGTGGAGTATACAGCATGGT	0.507												
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:178936094C>A	uc003fjk.3	+	9	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.Q546K(183)|p.E545A(96)|p.E545G(79)|p.Q546R(28)|p.Q546E(24)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546P(15)|p.Q546L(6)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
MFSD10	10227	broad.mit.edu	37	4	2934851	2934851	+	Silent	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:2934851C>T	uc003gfw.3	-	2	668	c.354G>A	c.(352-354)ccG>ccA	p.P118P	MFSD10_uc021xks.1_Silent_p.P42P|MFSD10_uc003gfz.3_Silent_p.P118P|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	118					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGCATCACCGGGCGCCTCC	0.627												
UGT2A3	79799	broad.mit.edu	37	4	69798434	69798434	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:69798434A>G	uc003hef.2	-	2	939	c.908T>C	c.(907-909)gTg>gCg	p.V303A	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	303						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAAACACCACAATACCATC	0.363												
PRKG2	5593	broad.mit.edu	37	4	82125748	82125748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:82125748delC	uc003hmh.2	-	0	467	c.454delG	c.(454-456)gacfs	p.D152fs	PRKG2_uc011cch.1_Frame_Shift_Del_p.D152fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	152					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TACCTGGAGTCTTTTCTGACT	0.428												
FGG	2266	broad.mit.edu	37	4	155527975	155527975	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:155527975C>A	uc003ioj.3	-	7	1152	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	FGG_uc003iog.3_Missense_Mutation_p.Q337H	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	337	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGTACTGAACTGCATGCCAT	0.473												
FBXO8	26269	broad.mit.edu	37	4	175160248	175160248	+	Silent	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:175160248G>C	uc003itp.3	-	4	1519	c.669C>G	c.(667-669)gcC>gcG	p.A223A	FBXO8_uc003itq.3_Silent_p.A182A	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	223	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GCTCTTCAGGGGCATGGATAT	0.398												
PLEKHG4B	153478	broad.mit.edu	37	5	161999	161999	+	Missense_Mutation	SNP	G	G	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:161999G>T	uc003jak.2	+	9	1571	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	507					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGGTCAGCCAGGCTGAGTGCA	0.627												
HCN1	348980	broad.mit.edu	37	5	45262526	45262526	+	Missense_Mutation	SNP	C	C	T	rs141383188	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:45262526C>T	uc003jok.3	-	7	2195	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	724						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCTGGGAGGCGGTGGGGGAG	0.652												
PCDHAC2	56141	broad.mit.edu	37	5	140214002	140214002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140214002C>T	uc003lhq.2	+	0	34	c.34C>T	c.(34-36)Cga>Tga	p.R12*	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_uc011dac.2_Nonsense_Mutation_p.R12*	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			CCCAGGGGGCCGACATCTACT	0.468												
PCDHGC5	56102	broad.mit.edu	37	5	140751755	140751755	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140751755G>A	uc003ljw.2	+	0	1794	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S598S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	599	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGACTCGGGATACAACG	0.672												
DRD1	1812	broad.mit.edu	37	5	174869045	174869045	+	Missense_Mutation	SNP	G	G	A	rs144813919	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:174869045G>A	uc003mcz.3	-	1	2003	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	DRD1_uc021yia.1_Missense_Mutation_p.A353V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	353					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	ATTATTCGTCGCAGGGCAAAG	0.478												
NKAPL	222698	broad.mit.edu	37	6	28227813	28227813	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:28227813A>G	uc003nkt.3	+	0	716	c.664A>G	c.(664-666)Aga>Gga	p.R222G	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	222	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGATAAAAAGAGAGTTAAAGC	0.313												
PPP1R10	5514	broad.mit.edu	37	6	30573989	30573989	+	Silent	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:30573989A>G	uc003nqn.1	-	8	1218	c.666T>C	c.(664-666)ccT>ccC	p.P222P	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	222	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCTTCTTCACAGGCACCAAGG	0.527												
COL11A2	1302	broad.mit.edu	37	6	33141808	33141808	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:33141808G>A	uc003ocx.1	-	32	2737	c.2509C>T	c.(2509-2511)Cgg>Tgg	p.R837W	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R751W|COL11A2_uc003ocz.1_Missense_Mutation_p.R730W	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	837	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	p.P836S(1)		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						CGTTCTCCCCGAGGCCCTGAC	0.612												
NOX3	50508	broad.mit.edu	37	6	155743956	155743957	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:155743956_155743957TC>AA	uc003qqm.3	-	9	1282_1283	c.1179_1180GA>TT	c.(1177-1182)ctgaca>ctTTca	p.T394S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	394	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATACATCTGTCAGGGCAGTTC	0.520												
PPP1R9A	55607	broad.mit.edu	37	7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:94827740C>T	uc003unp.3	+	5	2116	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	PPP1R9A_uc010lfj.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.2_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.2_Missense_Mutation_p.R612C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	612	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478										HNSCC(28;0.073)		
EPHB6	2051	broad.mit.edu	37	7	142561895	142561895	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:142561895G>A	uc011kst.2	+	6	1124	c.337G>A	c.(337-339)Gca>Aca	p.A113T	EPHB6_uc011ksu.2_Missense_Mutation_p.A113T|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	113						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTCTGTGCGGGCATGCTCCAG	0.657												
IDO1	3620	broad.mit.edu	37	8	39781104	39781104	+	Silent	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr8:39781104C>T	uc003xnm.3	+	7	769	c.655_splice	c.e7+1	p.D219_splice		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	219					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ACCAAATCCACGGCAAGTGTT	0.433												
TAF1L	138474	broad.mit.edu	37	9	32632187	32632187	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:32632187T>C	uc003zrg.1	-	0	3481	c.3391A>G	c.(3391-3393)Aaa>Gaa	p.K1131E	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1131					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCTGGTTTTCTTGTTCTGC	0.468												
GPR107	57720	broad.mit.edu	37	9	132842036	132842036	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:132842036C>G	uc004bze.2	+	4	741	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	GPR107_uc004bzb.2_5'UTR|GPR107_uc011mbx.1_Missense_Mutation_p.Q172E|GPR107_uc004bzd.2_Missense_Mutation_p.Q172E	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	172						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CAACCAGACCCAGAAGACACA	0.433												
KLHL34	257240	broad.mit.edu	37	X	21675508	21675508	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:21675508G>A	uc004czz.1	-	0	941	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	133	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTTGGCGGCGAAGCAGCAGT	0.697												
GPR34	2857	broad.mit.edu	37	X	41555067	41555067	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:41555067T>C	uc022bvc.1	+	0	181	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.Y61H|GPR34_uc004dfq.4_Missense_Mutation_p.Y61H|GPR34_uc010nhg.3_Missense_Mutation_p.Y61H|GPR34_uc004dfr.4_Missense_Mutation_p.Y61H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	61						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACCACATCCTACTCTGTTAT	0.398												
MAGEC3	139081	broad.mit.edu	37	X	140967026	140967026	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:140967026G>A	uc011mwp.2	+	2	324	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	108										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCAGCCGGAGGGGAAGT	0.562												
ZNF275	10838	broad.mit.edu	37	X	152612297	152612297	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:152612297C>T	uc011myn.2	+	1					ZNF275_uc004fhg.2_Missense_Mutation_p.H52Y|ZNF275_uc022cht.1_5'UTR|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.							intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGACCCGACACCAGATGAA	0.552												
L1CAM	3897	broad.mit.edu	37	X	153128302	153128302	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:153128302C>T	uc004fjb.3	-	27	3698	c.3590G>A	c.(3589-3591)gGg>gAg	p.G1197E	L1CAM_uc004fjc.3_Missense_Mutation_p.G1193E|L1CAM_uc010nuo.3_Missense_Mutation_p.G1188E	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1197					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGATGTCCCCGTTGAGCGA	0.607