Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TMEM184A	202915	broad.mit.edu	37	7	1586596	1586596	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:1586596C>A	ENST00000297477.5	-	9	1550	c.1234G>T	c.(1234-1236)Gac>Tac	p.D412Y		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	412						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCCTACAGGTCCTCCGAGGGG	0.716000													7	17					0.00198382	0.00200434	1	1	0
PARPBP	55010	broad.mit.edu	37	12	102542068	102542068	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:102542068C>T	ENST00000378128.3	+	3	326	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.H72Y|PARPBP_ENST00000537257.1_Missense_Mutation_p.H72Y|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_5'UTR|PARPBP_ENST00000358383.5_Missense_Mutation_p.H72Y|PARPBP_ENST00000327680.2_5'UTR			Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	72					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						ATACTTGCTCCATGAGAAATT	0.333000													28	68					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55844898	55844898	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:55844898C>T	ENST00000422046.2	-	10	1386	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	CES1_ENST00000360526.3_Missense_Mutation_p.E371K|CES1_ENST00000361503.4_Missense_Mutation_p.E370K			P23141	EST1_HUMAN	carboxylesterase 1	370					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGTTGCCCTTCGGAGAGTGGA	0.423000													9	41					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19009030	19009030	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:19009030G>C	ENST00000379878.3	-	28	3199	c.2958C>G	c.(2956-2958)ctC>ctG	p.L986L	GPR64_ENST00000357991.3_Silent_p.L999L|GPR64_ENST00000379869.3_Silent_p.L1002L|GPR64_ENST00000379873.2_Silent_p.L951L|GPR64_ENST00000379876.1_Silent_p.L978L|GPR64_ENST00000357544.3_Silent_p.L972L|GPR64_ENST00000340581.3_Silent_p.L883L|GPR64_ENST00000354791.3_Silent_p.L986L|GPR64_ENST00000356606.4_Silent_p.L988L|GPR64_ENST00000360279.4_Silent_p.L980L	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	1002					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AAGTCCTTCTGAGAGCCATAC	0.423000													38	157					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12311045	12311045	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:12311045C>T	ENST00000317702.5	+	3	504	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TUBB6_ENST00000592683.1_Silent_p.F90F|TUBB6_ENST00000586653.1_Silent_p.F90F|TUBB6_ENST00000591208.1_Silent_p.F90F|TUBB6_ENST00000591909.1_Silent_p.F90F|TUBB6_ENST00000590967.1_Silent_p.F90F			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	90					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGACAACTTCATCTTTGGTA	0.438000													14	30					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187628329	187628329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:187628329G>A	ENST00000441802.2	-	2	2862	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	885	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCAGCTCTCGATCCAGAGGG	0.512000										HNSCC(5;0.00058)			35	99					0	0	1	0	0
C12orf52	84934	broad.mit.edu	37	12	113629518	113629518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:113629518C>T	ENST00000548278.1	+	4	1398	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.R260W|C12orf52_ENST00000549621.1_Missense_Mutation_p.R236W	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	236	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGTGACCTTCCGGAGCCCCCT	0.617000													18	68					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122747062	122747062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:122747062C>T	ENST00000264499.4	-	19	2284	c.2101G>A	c.(2101-2103)Gac>Aac	p.D701N		NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	701					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCATAACTGTCCAGAATTTCC	0.313000									Bardet-Biedl syndrome				16	46					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170927657	170927657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:170927657C>T	ENST00000367759.4	+	4	282	c.128C>T	c.(127-129)tCc>tTc	p.S43F	MROH9_ENST00000367758.3_Missense_Mutation_p.S43F	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		AGTAATGAATCCATGATCCTG	0.308000													31	88					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911360	23911360	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:23911360G>C	ENST00000382298.3	-	10	7243	c.6655C>G	c.(6655-6657)Ctg>Gtg	p.L2219V	SACS_ENST00000402364.1_Missense_Mutation_p.L1469V|SACS_ENST00000382292.3_Missense_Mutation_p.L2219V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2219					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTTTGTCAGAAATGGAAGG	0.378000													43	68					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863124	75863124	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:75863124C>G	ENST00000377636.3	-	20	3955	c.3609G>C	c.(3607-3609)gaG>gaC	p.E1203D	TBC1D4_ENST00000377625.2_Missense_Mutation_p.E1140D|TBC1D4_ENST00000425511.1_Missense_Mutation_p.E367D|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E1195D	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1203						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TATTGGCCCTCTCCAGCTTCT	0.408000													42	138					0	0	1	0	0
STX19	415117	broad.mit.edu	37	3	93733462	93733462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:93733462C>T	ENST00000315099.2	-	2	908	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	218	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TTAACAAGTTCCTTGTGTCTC	0.328000													29	80					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133041368	133041368	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:133041368C>T	ENST00000262283.5	-	17	1825	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	OC90_ENST00000603859.1_Missense_Mutation_p.E364K|OC90_ENST00000443356.2_Missense_Mutation_p.E380K|OC90_ENST00000254627.3_Missense_Mutation_p.E364K			Q02509	OC90_HUMAN	otoconin 90	380					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGAAGCCTCTCAAGCAGGCAG	0.512000													32	78					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23445919	23445919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:23445919G>A	ENST00000262713.2	-	3	1486	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R371*|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	371	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CGCAAAGTTCGCCCTAGAAAC	0.493000													21	73					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527243	16527243	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:16527243G>C	ENST00000311331.7	-	6	1048	c.957C>G	c.(955-957)ctC>ctG	p.L319L		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGCTGACTGAGATATGAAG	0.348000													28	104					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96238049	96238049	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:96238049C>G	ENST00000437043.3	+	12	2531	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.S562*	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	607					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATTCTAAAATCAAAGACAGGT	0.358000													41	23					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60463440	60463440	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:60463440A>T	ENST00000371201.3	-	11	1428	c.1321T>A	c.(1321-1323)Tca>Aca	p.S441T	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.S212T|C1orf87_ENST00000395552.1_Missense_Mutation_p.S75T	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	441							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGCAGGCTGAAGTTTCAGCA	0.493000													21	29					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	248431	248431	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:248431C>T	ENST00000538872.1	+	4	2020	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C	IQSEC3_ENST00000326261.4_Silent_p.C634C|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.C331C			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	634					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCTACCACTGCGAGAACCCAG	0.657000													3	10					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234851309	234851309	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:234851309G>C	ENST00000324695.4	+	6	656	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.E129Q|TRPM8_ENST00000355722.4_Missense_Mutation_p.E156Q	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	206						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGGAGTTCAGAGGAGAATAT	0.537000													28	95					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136256512	136256512	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:136256512G>A	ENST00000371957.3	+	7	630	c.523G>A	c.(523-525)Gac>Aac	p.D175N	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	175	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAAACTGCAGGACCTGAGTTC	0.552000													63	320					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139404356	139404356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139404356C>A	ENST00000277541.6	-	18	2873	c.2798G>T	c.(2797-2799)tGc>tTc	p.C933F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	933	EGF-like 24.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGGGCAGGCAGTCGCAGAA	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			27	141					3.73808e-20	4.02668e-20	1	1	0
UNC5B	219699	broad.mit.edu	37	10	73057676	73057676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:73057676G>A	ENST00000335350.6	+	16	2917	c.2501G>A	c.(2500-2502)gGc>gAc	p.G834D	UNC5B_ENST00000373192.4_Missense_Mutation_p.G823D	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	834					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCTGCTGGCTCCCTGGAC	0.617000													19	72					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73563709	73563709	+	Silent	SNP	T	T	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:73563709T>G	ENST00000261973.7	+	7	915	c.630T>G	c.(628-630)gcT>gcG	p.A210A	RBM25_ENST00000540173.1_Silent_p.A210A|RBM25_ENST00000526754.1_Silent_p.A210A|RBM25_ENST00000525321.1_Silent_p.A210A|RBM25_ENST00000527432.1_Silent_p.A210A	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	210					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TTAAAGGGGCTATTGAAGTTT	0.423000													24	73					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013690	247013690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:247013690C>T	ENST00000366508.1	-	33	5859	c.5723G>A	c.(5722-5724)aGa>aAa	p.R1908K	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R1873K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1882K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1873	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTAATTCTTCTAGGAGTCCT	0.313000													34	77					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800952	21800952	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:21800952G>A	ENST00000443632.2	+	2	2140	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	HIC2_ENST00000407598.2_Missense_Mutation_p.E590K|HIC2_ENST00000407464.2_Missense_Mutation_p.E590K			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	590					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAAACCTTACGAGTGCCAGCT	0.647000													21	31					0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53377397	53377397	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:53377397C>T	ENST00000536120.1	-	5	866	c.49G>A	c.(49-51)Gag>Aag	p.E17K	ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000371522.4_Missense_Mutation_p.E63K|ECHDC2_ENST00000541281.1_Missense_Mutation_p.E17K|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E63K			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	63					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TTTCTTACCTCACTGACGAAG	0.587000													24	56					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24586208	24586208	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:24586208G>C	ENST00000446197.3	+	3	965	c.238G>C	c.(238-240)Gac>Cac	p.D80H	DCAF11_ENST00000396941.4_Missense_Mutation_p.D54H|DCAF11_ENST00000559115.1_Missense_Mutation_p.D80H|DCAF11_ENST00000396936.1_Start_Codon_SNP_p.M1I|DCAF11_ENST00000560171.1_Intron	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	80						CUL4 RING ubiquitin ligase complex	protein binding										GGAAGAGAATGACAGAGCTTG	0.488000													32	94					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53308797	53308797	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:53308797T>A	ENST00000375365.2	-	2	163	c.71A>T	c.(70-72)cAg>cTg	p.Q24L	IQSEC2_ENST00000375368.5_Intron|IQSEC2_ENST00000396435.3_Intron|IQSEC2_ENST00000462054.1_5'UTR	NM_015075.1	NP_055890.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	0					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCAAGGACCTGAGTAGGACA	0.547000													14	29					0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63796700	63796700	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:63796700T>A	ENST00000355095.4	+	3	389	c.67T>A	c.(67-69)Tct>Act	p.S23T	ZNF736_ENST00000423484.1_Missense_Mutation_p.S23T	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN	zinc finger protein 736	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						ATGCCTGGACTCTGCTCAGCA	0.423000													20	26					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5081808	5081808	+	Missense_Mutation	SNP	C	C	T	rs145897634		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:5081808C>T	ENST00000312251.3	-	3	639	c.620G>A	c.(619-621)cGt>cAt	p.R207H	NAGPA_ENST00000381955.3_Missense_Mutation_p.R207H|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	207					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCTTCCATTACGAATCAGCCA	0.562000													57	163					0	0	1	0	0
TMED9	54732	broad.mit.edu	37	5	177022351	177022351	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:177022351C>T	ENST00000332598.6	+	5	699	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	214					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCATCCTCGTGGCCATCG	0.592000													16	77					0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9763749	9763749	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:9763749G>A	ENST00000448622.1	-	6	1319	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	ZNF562_ENST00000541032.1_Missense_Mutation_p.T349M|ZNF562_ENST00000453792.2_Missense_Mutation_p.T317M|ZNF562_ENST00000537617.1_Missense_Mutation_p.T270M|ZNF562_ENST00000590155.1_Missense_Mutation_p.T385M|ZNF562_ENST00000453372.2_Missense_Mutation_p.T386M|ZNF562_ENST00000293648.4_Missense_Mutation_p.T314M	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T314M(1)|p.T386M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGAGTAAGCGTTGAAGATCT	0.413000													31	96					0	0	1	0	0
SPEF1	25876	broad.mit.edu	37	20	3759999	3759999	+	Splice_Site	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:3759999C>T	ENST00000379756.3	-	3	382	c.221_splice	c.e3-1	p.R74_splice	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	74						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCAGTACCTTCCTGAGGGGTA	0.582000													5	10					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92763077	92763077	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:92763077C>G	ENST00000370360.3	-	3	130	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	GLMN_ENST00000534881.1_Missense_Mutation_p.E17Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	17					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCTTGCTCTTCTAGGATTTGC	0.303000									Multiple Glomus Tumors (of the Skin), Familial				42	122					0	0	1	0	0
RNF208	727800	broad.mit.edu	37	9	140115191	140115191	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:140115191G>A	ENST00000392827.1	-	2	642	c.474C>T	c.(472-474)cgC>cgT	p.R158R	RNF208_ENST00000391553.1_Silent_p.R158R			Q9H0X6	RN208_HUMAN	ring finger protein 208	158							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGGACAGCACGCGGGGCCTCC	0.672000													11	34					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1902908	1902908	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:1902908G>A	ENST00000382722.5	-	38	3689	c.3327C>T	c.(3325-3327)tgC>tgT	p.C1109C	CACNA2D4_ENST00000538027.2_Silent_p.C254C|CACNA2D4_ENST00000588077.1_Silent_p.C1045C|CACNA2D4_ENST00000587995.1_Silent_p.C1084C|CACNA2D4_ENST00000538450.1_Silent_p.C239C	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	1109						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCGCCGCCGCAGTCCTGGG	0.662000													6	27					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50861874	50861874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:50861874C>T	ENST00000253719.2	-	9	1407	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	400					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGTGCGAGCGCGCGCCAGGCC	0.701000													4	22					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413976	139413976	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139413976G>C	ENST00000277541.6	-	5	859	c.784C>G	c.(784-786)Cca>Gca	p.P262A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	262	EGF-like 7; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGTTTCCTGGACAATCGTCG	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			34	158					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590536	140590536	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:140590536T>A	ENST00000239450.2	+	1	2246	c.2057T>A	c.(2056-2058)cTc>cAc	p.L686H	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L349H	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		686					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGACTCGCTCACTGTCTAC	0.701000													124	53					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129040	152129040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:152129040C>T	ENST00000316073.3	-	3	599	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	179	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGTGAGAATCTCTGTCTTGT	0.468000													32	305					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240085500	240085500	+	Splice_Site	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:240085500C>T	ENST00000345617.3	-	6	1401	c.611_splice	c.e6+1	p.G204_splice	HDAC4_ENST00000541256.1_Splice_Site_p.G173_splice	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	204	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACACTTACCCGTACCAGTAG	0.562000													19	73					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806933	22806933	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:22806933C>G	ENST00000361524.3	-	4	1097	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	ZNF521_ENST00000584787.1_Missense_Mutation_p.E97Q|ZNF521_ENST00000538137.2_Missense_Mutation_p.E317Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	317					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGAAACTCTCAGAACAAATG	0.537000			T	PAX5	ALL								21	39					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865995	139865995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:139865995C>T	ENST00000370532.2	-	1	728	c.537G>A	c.(535-537)tgG>tgA	p.W179*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	179	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCATGTCTTCCAGTAACCTC	0.433000													74	235					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97333759	97333759	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:97333759G>A	ENST00000375337.3	-	4	618	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	184					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)				CAAGCATGAAGAGGTCCACGC	0.567000													18	51					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754657	167754657	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:167754657G>A	ENST00000239587.5	+	3	1357	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	423	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAAGAAATGAGGGGAGAGAAG	0.433000													29	74					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139904519	139904519	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139904519G>A	ENST00000265662.5	-	42	6558	c.6411C>T	c.(6409-6411)gaC>gaT	p.D2137D	ABCA2_ENST00000371605.3_Silent_p.D2136D|ABCA2_ENST00000341511.6_Silent_p.D2137D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2136	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGAACAGCGCGTCACACTGCG	0.697000													3	11					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670849	49670849	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:49670849G>A	ENST00000561648.1	-	4	2267	c.2214C>T	c.(2212-2214)caC>caT	p.H738H	ZNF423_ENST00000567169.1_Silent_p.H621H|ZNF423_ENST00000262383.2_Silent_p.H738H|ZNF423_ENST00000562871.1_Silent_p.H678H|ZNF423_ENST00000562520.1_Silent_p.H678H|ZNF423_ENST00000563137.2_Silent_p.H678H|ZNF423_ENST00000535559.1_Silent_p.H621H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	738					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCACCGCCAGGTGCACCTGGA	0.567000													16	35					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209136285	209136285	+	Silent	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:209136285T>C	ENST00000264380.4	+	2	200	c.42T>C	c.(40-42)gcT>gcC	p.A14A	PIKFYVE_ENST00000308862.6_Silent_p.A14A|PIKFYVE_ENST00000407449.1_Silent_p.A14A|PIKFYVE_ENST00000392202.3_Silent_p.A14A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	14					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGGACTCTGCTAATGATTTGC	0.403000													66	161					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49303334	49303334	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:49303334C>T	ENST00000402551.1	-	6	935	c.315G>A	c.(313-315)ctG>ctA	p.L105L	BCAT2_ENST00000598162.1_Silent_p.L145L|BCAT2_ENST00000545387.2_Silent_p.L53L|BCAT2_ENST00000599246.1_Silent_p.L53L|BCAT2_ENST00000316273.6_Silent_p.L145L|BCAT2_ENST00000597011.1_Silent_p.L105L			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	145						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GGATGCACTCCAGCAACTCCA	0.657000													10	54					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172414295	172414295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:172414295G>A	ENST00000367727.4	+	2	302	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	35										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGCCTTCCCAGAAGGTAACCT	0.443000													18	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92543142	92543142	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:92543142C>G	ENST00000298047.6	+	12	9398	c.9381C>G	c.(9379-9381)aaC>aaG	p.N3127K	FAT3_ENST00000525166.1_Missense_Mutation_p.N2977K|FAT3_ENST00000409404.2_Missense_Mutation_p.N3127K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3127	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAATGATAACCCCCCTGTGT	0.547000										TCGA Ovarian(4;0.039)			26	60					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47034420	47034420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:47034420C>T	ENST00000377604.3	+	6	1247	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q92*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q92*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	169	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GTCTCCAGGTCAGAGCCGGGG	0.617000													9	56					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189708	197189708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:197189708C>T	ENST00000260983.2	-	6	919	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	246	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTTACCTCTCGGTGCCAAAT	0.512000													49	175					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111217012	111217012	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:111217012G>A	ENST00000369769.2	-	1	643	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	140						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCGGGTCGAAGTACCTCA	0.642000													27	82					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978005	45978005	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr21:45978005G>C	ENST00000391620.1	-	1	638	c.594C>G	c.(592-594)ctC>ctG	p.L198L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	198	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						TGGGGCGGCAGAGGAGGGACA	0.692000													9	39					0	0	1	0	0
KCTD1	284252	broad.mit.edu	37	18	24081100	24081100	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:24081100T>A	ENST00000417602.1	-	2	1923	c.1924A>T	c.(1924-1926)Att>Ttt	p.I642F	KCTD1_ENST00000580059.1_Missense_Mutation_p.I34F|KCTD1_ENST00000579973.1_Missense_Mutation_p.I34F|KCTD1_ENST00000317932.7_Missense_Mutation_p.I34F|KCTD1_ENST00000408011.3_Missense_Mutation_p.I34F	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	34					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCCACATCAATGTGGACAGGC	0.502000													19	103					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478000										HNSCC(5;0.00058)			7	29					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682865	218682865	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:218682865G>A	ENST00000171887.4	-	24	4330	c.3878C>T	c.(3877-3879)gCc>gTc	p.A1293V	TNS1_ENST00000419504.1_Missense_Mutation_p.A1280V|TNS1_ENST00000430930.1_Missense_Mutation_p.A1272V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1293						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGGGCTGGCTATTGCATT	0.657000													6	24					0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92518079	92518079	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:92518079C>T	ENST00000370383.4	+	6	819	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	241						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTTGAAACATCTGTTTACCAG	0.348000													11	23					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178762845	178762845	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:178762845G>A	ENST00000286063.5	-	4	1559	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.A56A|PDE11A_ENST00000409504.1_Silent_p.A56A|PDE11A_ENST00000358450.4_Silent_p.A164A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	414	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCAGAGTTTGGGCCCGATGCA	0.383000									Primary Pigmented Nodular Adrenocortical Disease, Familial				29	76					0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6905055	6905055	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:6905055G>A	ENST00000251535.6	+	8	1139	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	362	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATCACTTGCTGAACACTCACC	0.532000													28	124					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816775	101816775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:101816775C>T	ENST00000370418.3	-	6	1257	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	336	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TTTACCTGTTCCAGGAACTGG	0.478000													79	189					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341555	121341555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:121341555G>C	ENST00000338040.4	+	3	1693	c.1279G>C	c.(1279-1281)Gcc>Ccc	p.A427P		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	427					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATGGATTTTGCCACACAAAC	0.512000													35	99					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	668506	668506	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:668506C>T	ENST00000266383.5	+	19	2820	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	936						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATCTACAAGTCTGACCTGGAC	0.612000													34	88					0	0	1	0	0
PRPF38A	84950	broad.mit.edu	37	1	52882357	52882357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:52882357G>T	ENST00000257181.9	+	10	1120	c.934G>T	c.(934-936)Gag>Tag	p.E312*	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	312					mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GAGAGGGAATGAGTAATGGAC	0.448000													8	44					0.000442599	0.000448725	1	1	0
IFT52	51098	broad.mit.edu	37	20	42271216	42271216	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:42271216C>T	ENST00000373030.3	+	13	1348	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Silent_p.I406I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	406						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCAAACATATCCTTGAGCACG	0.458000													17	41					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932117	23932117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:23932117G>A	ENST00000331837.4	-	1	333	c.248C>T	c.(247-249)cCg>cTg	p.P83L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	83					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCCGCGCTCGGGGCCTGGTG	0.761000									Prader-Willi syndrome				15	17					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111749793	111749793	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:111749793C>T	ENST00000524880.1	-	1	356	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	FDXACB1_ENST00000260257.4_Missense_Mutation_p.E22K|FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	322					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TCCAGGGTTTCGCTCAGAGCG	0.667000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	22					0	0	1	0	0
CTSK	1513	broad.mit.edu	37	1	150778461	150778461	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:150778461C>G	ENST00000271651.3	-	4	385	c.275G>C	c.(274-276)gGa>gCa	p.G92A	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	92					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACTTTGAGTCCAGTCATCTT	0.493000													27	76					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4796395	4796395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:4796395G>A	ENST00000299320.5	+	7	1541	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.G369S	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	355										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAGGAAGCAGGGCTCCCAGGC	0.567000													15	60					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38159466	38159466	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:38159466C>T	ENST00000308059.6	+	33	4676	c.4655C>T	c.(4654-4656)aCa>aTa	p.T1552I	DLEC1_ENST00000346219.3_Missense_Mutation_p.T1552I|DLEC1_ENST00000452631.2_Missense_Mutation_p.T1555I			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1552					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGGAGGAGACAGCCTCAGCG	0.617000											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	43					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83588802	83588802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:83588802C>T	ENST00000297977.5	-	8	1900	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	HDX_ENST00000506585.2_Missense_Mutation_p.E539K|HDX_ENST00000373177.2_Missense_Mutation_p.E597K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	597						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTTCTACTTCAGAATTACTT	0.259000													8	14					0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	996115	996115	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:996115C>T	ENST00000453894.1	+	5	1185	c.1097C>T	c.(1096-1098)gCg>gTg	p.A366V	IDUA_ENST00000247933.4_Missense_Mutation_p.A344V|IDUA_ENST00000514224.1_Missense_Mutation_p.A212V			P35475	IDUA_HUMAN	iduronidase, alpha-L-	344			T -> P (in MPS1H).		disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TTCCCCTACGCGCTCCTGAGC	0.687000													8	13					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108206680	108206680	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:108206680A>G	ENST00000278616.4	+	56	8645	c.8260A>G	c.(8260-8262)Act>Gct	p.T2754A	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.T2754A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2754	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AACTATCTGTACTTATAAGGT	0.378000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			11	34					0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100334029	100334029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:100334029C>T	ENST00000372930.4	+	1	321	c.38C>T	c.(37-39)tCa>tTa	p.S13L		NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	13						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GTGGCCCTCTCAGTGGCCCTG	0.557000													31	65					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41002598	41002598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:41002598C>T	ENST00000324545.7	+	10	1849	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q406*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	406					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTTCATCAGCCACAGTA	0.353000													20	45					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028415	142028415	+	RNA	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:142028415C>T	ENST00000390353.2	+	0	206																											AACCATAACTCCATGTACTGG	0.507000													84	103					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28666594	28666594	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:28666594G>C	ENST00000280904.6	-	7	1330	c.887C>G	c.(886-888)tCt>tGt	p.S296C	DSC2_ENST00000251081.6_Missense_Mutation_p.S296C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	296	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGATGCATAGAAAATAGGGT	0.458000													27	97					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424200	89424200	+	RNA	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:89424200G>C	ENST00000532352.1	+	0	1663							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAATTCCATAGTGCTCCCTTT	0.378000													40	91					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87671739	87671739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:87671739C>T	ENST00000436978.1	+	18	3247	c.2767C>T	c.(2767-2769)Cga>Tga	p.R923*	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.R923*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.R923*|PTPN13_ENST00000411767.2_Nonsense_Mutation_p.R923*	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	923						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTTGCTGTTCGACCTTTATC	0.468000													35	95					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45188731	45188731	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:45188731G>A	ENST00000279027.4	-	13	1757	c.1739C>T	c.(1738-1740)gCt>gTt	p.A580V	SLC13A3_ENST00000413164.2_Missense_Mutation_p.A530V|SLC13A3_ENST00000472148.1_Missense_Mutation_p.A498V|SLC13A3_ENST00000290317.5_Missense_Mutation_p.A533V|SLC13A3_ENST00000495082.1_Missense_Mutation_p.A533V|SLC13A3_ENST00000396360.1_Missense_Mutation_p.A498V|SLC13A3_ENST00000435032.1_Missense_Mutation_p.A165V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	580						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTACATATCAGCCCAGTCCGG	0.562000													24	112					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107403061	107403061	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:107403061C>A	ENST00000418180.1	-	1	138	c.48G>T	c.(46-48)tgG>tgT	p.W16C	COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000372216.4_Intron|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000334504.7_Intron			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	0					cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTACATCCAACCACTTGCACC	0.512000									Alport syndrome with Diffuse Leiomyomatosis				17	46					2.23348e-06	2.30426e-06	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1268526	1268526	+	Silent	SNP	T	T	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:1268526T>G	ENST00000447027.1	+	31	10483	c.10425T>G	c.(10423-10425)acT>acG	p.T3475T	MUC5B_ENST00000529681.1_Silent_p.T3472T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3472	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCTGGACTTCGGCCACCT	0.667000													19	48					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12395847	12395847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:12395847G>A	ENST00000358136.3	+	39	8644	c.8514G>A	c.(8512-8514)tgG>tgA	p.W2838*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.W2838*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2838					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGAAGACTGGATGGGCTCTT	0.408000													32	70					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48456412	48456412	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:48456412G>A	ENST00000358536.4	-	21	4274	c.4005C>T	c.(4003-4005)atC>atT	p.I1335I	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.I1152I|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Silent_p.I1335I|PLXNB1_ENST00000456774.1_Silent_p.I1152I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1335	IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCGGCACGTGATGAGCTGGG	0.587000													34	67					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54155351	54155351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:54155351G>A	ENST00000404125.1	-	11	1461	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	469					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTGCCTCCTGATACCAAACT	0.443000													6	47					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735626	164735626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:164735626G>A	ENST00000264382.3	-	30	3618	c.3556C>T	c.(3556-3558)Cgt>Tgt	p.R1186C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1186	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAACTGTACGGTAAGTTAGA	0.348000										HNSCC(35;0.089)			21	36					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73233949	73233949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:73233949G>A	ENST00000377110.2	-	16	2399	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V	TRPM3_ENST00000377106.1_Missense_Mutation_p.A591V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A746V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A578V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A723V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A581V|TRPM3_ENST00000396280.5_Missense_Mutation_p.A568V|TRPM3_ENST00000377111.2_Missense_Mutation_p.A719V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A581V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A578V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A591V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A566V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	744						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGTTTCATGGCCAGCTGTTC	0.577000													6	50					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149809804	149809804	+	Silent	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:149809804T>C	ENST00000370396.2	+	8	645	c.591T>C	c.(589-591)acT>acC	p.T197T	MTM1_ENST00000413012.2_Silent_p.T160T|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.T82T|MTM1_ENST00000542741.1_Silent_p.T102T	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	197	Myotubularin phosphatase.		T -> I (in XCNM).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTGACACTTACCCTGCTC	0.433000													28	102					0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52400976	52400976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:52400976C>T	ENST00000293662.4	+	1	253	c.173C>T	c.(172-174)gCg>gTg	p.A58V		NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	58						cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGTACGCGGCGCTGGAGGAC	0.761000													4	6					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961045	34961045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:34961045C>T	ENST00000329357.5	+	1	133	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	33										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTTCGCGAAGCGCAAGCACAG	0.617000													12	34					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108412184	108412184	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:108412184C>T	ENST00000263054.6	-	18	2438	c.2431G>A	c.(2431-2433)Gcg>Acg	p.A811T	SORCS1_ENST00000344440.6_Missense_Mutation_p.A811T|SORCS1_ENST00000369698.1_Missense_Mutation_p.A346T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTTGTTCCGCTGTCAGCTTT	0.527000													18	55					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72984118	72984118	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:72984118G>A	ENST00000521978.1	+	23	3465	c.3465G>A	c.(3463-3465)gcG>gcA	p.A1155A	RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Silent_p.A1091A|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000520567.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1155					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCAGCATGCGTCTCCGGAGA	0.493000													9	36					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208610	58208610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:58208610G>T	ENST00000377918.3	+	1	1956	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCCAGCGGCGAGATCCGCAC	0.662000													37	195					4.14481e-20	4.44846e-20	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184665	130184665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:130184665C>A	ENST00000422113.2	-	2	984	c.658G>T	c.(658-660)Gag>Tag	p.E220*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	220						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGGTCCCCTCCGGCTGGTCC	0.687000													16	52					5.01169e-05	5.11647e-05	1	1	0
AFMID	125061	broad.mit.edu	37	17	76201746	76201746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:76201746C>T	ENST00000409257.5	+	9	761	c.707C>T	c.(706-708)aCc>aTc	p.T236I	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.T236I	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	236						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GTGGACCCCACCTGCCGTGTG	0.642000													12	34					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35661180	35661180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:35661180G>A	ENST00000373664.3	-	16	2336	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	RBL1_ENST00000344359.3_Missense_Mutation_p.S757L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	757	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ACCAATTAATGAATGAGCAGT	0.423000													60	154					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973723	29973723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:29973723G>A	ENST00000378993.1	+	11	2550	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R626Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	626	Interaction with NCS1.				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						CACTACTACCGAAGCTATGAG	0.527000													11	22					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886913	119886913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:119886913C>T	ENST00000464295.1	-	10	1856	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	GPR156_ENST00000315843.3_Missense_Mutation_p.E471K|GPR156_ENST00000461057.1_Missense_Mutation_p.E467K			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	471						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GATATCTTCTCCTCCTTCCCT	0.537000													10	90					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36712573	36712573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:36712573C>T	ENST00000216181.5	-	12	1599	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	457	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E457K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCAAAGATCTCGAAGCCGGCA	0.572000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				37	106					0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875635	51875635	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:51875635G>A	ENST00000221978.5	-	1	334	c.155C>T	c.(154-156)tCa>tTa	p.S52L	NKG7_ENST00000600427.1_Missense_Mutation_p.S52L|NKG7_ENST00000595217.1_Missense_Mutation_p.S52L	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	52						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTTACCTGATATGATGTC	0.582000													59	180					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344899	20344899	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:20344899G>T	ENST00000298642.2	+	1	509	c.473G>T	c.(472-474)aGt>aTt	p.S158I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTCAATGAGTCAGGTCATA	0.488000													71	304					3.39796e-24	3.68741e-24	1	1	0
PARP14	54625	broad.mit.edu	37	3	122411357	122411357	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:122411357G>C	ENST00000474629.2	+	4	831	c.565G>C	c.(565-567)Gat>Cat	p.D189H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGAGATTTTGATGTTGCTGT	0.388000													7	31					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152710318	152710318	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:152710318C>T	ENST00000330912.2	-	13	2121	c.571G>A	c.(571-573)Gag>Aag	p.E191K	TREX2_ENST00000370232.1_Missense_Mutation_p.E234K|TREX2_ENST00000402951.1_Missense_Mutation_p.E234K|TREX2_ENST00000370231.2_Missense_Mutation_p.E191K|TREX2_ENST00000334497.2_Missense_Mutation_p.E234K|TREX2_ENST00000414588.1_Missense_Mutation_p.E233K|TREX2_ENST00000338525.2_Missense_Mutation_p.E191K|TREX2_ENST00000393862.2_Missense_Mutation_p.E191K			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	234					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGTCGCCCTCGGCTGAGTGG	0.721000								Editing and processing nucleases					3	9					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27442266	27442266	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:27442266G>C	ENST00000295736.5	-	16	2459	c.2389C>G	c.(2389-2391)Ctt>Gtt	p.L797V	SLC4A7_ENST00000435667.2_Missense_Mutation_p.L682V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L678V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L793V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L347V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L678V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L673V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L789V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L806V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L793V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	797						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GAAACAGTAAGATTTCTCCAG	0.333000													35	65					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44201421	44201421	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:44201421G>A	ENST00000260665.7	-	9	1080	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	LRPPRC_ENST00000409659.1_Silent_p.L341L|LRPPRC_ENST00000409946.1_Silent_p.L341L	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	341					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAGTAAAATGAGGTTCATTG	0.353000													19	55					0	0	1	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67951986	67951986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:67951986G>T	ENST00000377477.2	+	9	1061	c.949G>T	c.(949-951)Gga>Tga	p.G317*		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						GCATGAAAAAGGAAACAGAAT	0.418000													24	186					9.62906e-15	1.02593e-14	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113169175	113169175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:113169175G>A	ENST00000401783.2	-	38	9041	c.8705C>T	c.(8704-8706)aCg>aTg	p.T2902M	SVEP1_ENST00000374469.1_Missense_Mutation_p.T2879M|SVEP1_ENST00000297826.5_Missense_Mutation_p.T828M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2902	Sushi 25.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGCCTTCCGTCACCCCATT	0.557000													29	107					0	0	1	0	0
ASB18	401036	broad.mit.edu	37	2	237172837	237172837	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:237172837T>C	ENST00000409749.3	-	1	151	c.152A>G	c.(151-153)aAt>aGt	p.N51S	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	51					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCAGTCGTCATTGGCCAGTTC	0.502000													7	34					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97172596	97172596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:97172596C>T	ENST00000287020.5	-	1	424	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	109					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCCAGCTTCTCAGCGATGGAG	0.582000													77	180					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147063165	147063165	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:147063165C>T	ENST00000370467.3	+	1	317	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	81						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGCTGTTCGTGTGCTACT	0.612000													38	89					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831884	5831884	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:5831884G>T	ENST00000318336.4	-	3	1889	c.695C>A	c.(694-696)aCc>aAc	p.T232N	FUT6_ENST00000524754.1_Missense_Mutation_p.T232N|FUT6_ENST00000286955.5_Missense_Mutation_p.T232N|FUT6_ENST00000527106.1_Missense_Mutation_p.T232N|FUT6_ENST00000592563.1_Missense_Mutation_p.T232N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	232					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CTCCATCATGGTTCCCTGGGG	0.617000													43	124					4.14194e-30	4.52831e-30	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107403862	107403862	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:107403862G>A	ENST00000394872.2	-	43	4590	c.4359C>T	c.(4357-4359)ccC>ccT	p.P1453P	COL4A6_ENST00000545689.1_Silent_p.P1428P|COL4A6_ENST00000372216.4_Silent_p.P1453P|COL4A6_ENST00000538570.1_Silent_p.P1395P|COL4A6_ENST00000334504.7_Silent_p.P1452P			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1453	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCATCCCGAAGGGGCCTTGCT	0.552000									Alport syndrome with Diffuse Leiomyomatosis				32	109					0	0	1	0	0
NINJ1	4814	broad.mit.edu	37	9	95887203	95887203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:95887203G>A	ENST00000375446.4	-	3	516	c.446C>T	c.(445-447)gCa>gTa	p.A149V	NINJ1_ENST00000489274.1_5'UTR	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	149					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CTGCTGGGGTGCCATGTCCAT	0.607000													13	51					0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4654955	4654955	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:4654955G>A	ENST00000228843.9	+	4	267	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RAD51AP1_ENST00000543041.1_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000352618.4_Intron|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E73K	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	73					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			cagactccctgaaggtacttt	0.383000													61	171					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715080	101715080	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:101715080G>C	ENST00000342239.3	-	4	2242	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	DNMBP_ENST00000324109.4_Silent_p.L717L|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	717					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCTCCAGCATGAGGTTTAGCT	0.483000													35	78					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160389070	160389070	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:160389070C>T	ENST00000368061.2	+	4	945	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	157					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAAGCTGCTCATCCTGCTAC	0.657000													24	67					0	0	1	0	0
MRPS24	64951	broad.mit.edu	37	7	43908573	43908573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:43908573G>A	ENST00000317534.5	-	3	270	c.209C>T	c.(208-210)tCg>tTg	p.S70L	RP5-1165K10.1_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	70					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGTGTGCAGCGACAGCCAGCC	0.577000													10	39					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819888	17819888	+	Silent	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:17819888C>G	ENST00000545871.1	-	3	703	c.243G>C	c.(241-243)ctG>ctC	p.L81L	RAI2_ENST00000451717.1_Silent_p.L81L|RAI2_ENST00000415486.3_Intron|RAI2_ENST00000360011.1_Silent_p.L81L|RP3-389A20.4_ENST00000509491.2_Silent_p.L47L|RAI2_ENST00000331511.1_Silent_p.L81L	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	81					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCCCGAGGCACAGGGGCTGCA	0.622000													54	116					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762177	96762177	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:96762177G>A	ENST00000295266.4	+	1	939	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	292					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GACACAGTATGAGTGATCCTG	0.423000													22	72					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45931564	45931564	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:45931564G>C	ENST00000275525.3	+	3	849	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	IGFBP1_ENST00000457280.1_Missense_Mutation_p.E185Q|IGFBP1_ENST00000468955.1_Intron	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	185	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						CAGAGTCGTAGAGAGTTTAGC	0.413000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	37					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45662327	45662327	+	Silent	SNP	C	C	T	rs143472730	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:45662327C>T	ENST00000297323.7	+	4	1027	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ADCY1_ENST00000432715.1_Silent_p.F110F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	335					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.F335F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCGGCAAGTTCGATGAATTAG	0.488000													17	23					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266307	75266307	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:75266307T>G	ENST00000325680.7	+	5	4431	c.4307T>G	c.(4306-4308)tTa>tGa	p.L1436*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.L1241*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1241					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)		GATGCAAGCTTAGACTCTGAC	0.478000													51	115					0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526161	109526161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:109526161C>T	ENST00000440112.2	-	2	439	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	ALKBH2_ENST00000429722.2_Silent_p.A212A|ALKBH2_ENST00000343075.3_Silent_p.A212A	NM_001205179.1|NM_001205180.1	NP_001192108.1|NP_001192109.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	51					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A212A(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GCCTGACCACCGCCACCCTCC	0.602000								Direct reversal of damage					7	169					0	0	1	0	0
ZNF576	79177	broad.mit.edu	37	19	44103203	44103203	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:44103203G>A	ENST00000336564.4	+	3	460	c.306G>A	c.(304-306)ccG>ccA	p.P102P	SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.P102P|ZNF576_ENST00000528387.1_Silent_p.P102P|ZNF576_ENST00000529930.1_Silent_p.P102P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Silent_p.P102P|ZNF576_ENST00000391965.2_Silent_p.P102P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CCACCCTGCCGGTTGCAACCA	0.632000													35	82					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87567120	87567120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:87567120C>T	ENST00000521271.1	+	15	1324	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q388*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	388	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTCTTCCTCAGATAAAACT	0.403000													34	75					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61779893	61779893	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:61779893C>T	ENST00000325324.6	+	11	1247	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.P400S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	360						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTCACATATCCTACTTTGAC	0.353000													12	135					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136794	80136794	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:80136794C>T	ENST00000466387.1	+	11	1651	c.927C>T	c.(925-927)agC>agT	p.S309S	CTNNA2_ENST00000361291.4_Silent_p.S343S|CTNNA2_ENST00000402739.4_Silent_p.S309S|CTNNA2_ENST00000496558.1_Silent_p.S309S|CTNNA2_ENST00000540488.1_Silent_p.S309S|CTNNA2_ENST00000541047.1_Silent_p.S309S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	309				S -> SS (in Ref. 5; AAY15008).	axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCTGGAGAGCATCATCAGCG	0.632000													27	83					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154319226	154319226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:154319226G>A	ENST00000368489.3	+	26	3254	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1071					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACCAGTTCCGGTTTGTGGGT	0.493000													30	86					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87590976	87590976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:87590976C>T	ENST00000320005.5	-	17	2091	c.2044G>A	c.(2044-2046)Ggc>Agc	p.G682S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	682					signal transduction|visual perception	integral to membrane	cGMP binding	p.G682S(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTCCTGTGCCTCCTAGGAGA	0.493000													27	61					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260555	35260555	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:35260555C>T	ENST00000342280.4	+	2	829	c.741C>T	c.(739-741)gaC>gaT	p.D247D		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	247					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AAGGCCAAGACGCACCCCCGA	0.652000													8	31					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38565425	38565425	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:38565425G>A	ENST00000332509.3	-	2	192	c.9C>T	c.(7-9)ttC>ttT	p.F3F	PLA2G6_ENST00000402064.1_Silent_p.F3F|PLA2G6_ENST00000335539.3_Silent_p.F3F	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	3					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGCGGCCAAAGAACTGCATCT	0.597000													7	21					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50050210	50050210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:50050210C>T	ENST00000335154.5	-	9	1095	c.862G>A	c.(862-864)Gct>Act	p.A288T	FMNL3_ENST00000293590.5_Missense_Mutation_p.A288T|FMNL3_ENST00000550488.1_Missense_Mutation_p.A288T|FMNL3_ENST00000352151.5_Missense_Mutation_p.A237T	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	288	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAAAGGCAGCAAGGATGATT	0.507000													7	28					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176397841	176397841	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:176397841G>C	ENST00000377219.2	-	4	425	c.259C>G	c.(259-261)Ctg>Gtg	p.L87V	UIMC1_ENST00000377227.4_Missense_Mutation_p.L87V|UIMC1_ENST00000506128.1_Missense_Mutation_p.L87V|UIMC1_ENST00000511320.1_Missense_Mutation_p.L87V	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	87	Glu-rich.|Necessary for transcriptional repression.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAGAGCCAGAGCAAACTGT	0.458000													14	95					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923848	2923848	+	Silent	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:2923848G>T	ENST00000254695.8	+	19	1800	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	RAP1GAP2_ENST00000366401.4_Silent_p.L555L|RAP1GAP2_ENST00000540393.2_Silent_p.L551L|RAP1GAP2_ENST00000542807.1_Silent_p.L570L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	570					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCCCCGCCTGCACACGGGCT	0.627000													7	21					0.248553	0.248553	1	1	0
SCO2	9997	broad.mit.edu	37	22	50962301	50962301	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:50962301G>A	ENST00000543927.1	-	2	746	c.540C>T	c.(538-540)taC>taT	p.Y180Y	SCO2_ENST00000535425.1_Silent_p.Y180Y|SCO2_ENST00000252785.3_Silent_p.Y180Y|SCO2_ENST00000395693.3_Silent_p.Y180Y	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	180	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCCTGGACGTAGCGGGCCA	0.607000													18	58					0	0	1	0	0
STARD5	80765	broad.mit.edu	37	15	81605705	81605705	+	Silent	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:81605705G>T	ENST00000302824.6	-	6	559	c.534C>A	c.(532-534)acC>acA	p.T178T		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	178	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	p.T178T(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGCTGAGGTCGGTATGGAAGA	0.557000													30	66					1.39806e-14	1.48417e-14	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139409131	139409131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139409131C>T	ENST00000277541.6	-	13	2113	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	680	EGF-like 18; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACACTCATCGATGTTGATG	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	28					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272649	164272649	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:164272649C>T	ENST00000515560.1	+	4	2746	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	NPY5R_ENST00000506953.1_Silent_p.C408C|NPY5R_ENST00000338566.3_Silent_p.C408C			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	408					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGGTGTATTGCATTTGTCATT	0.343000													43	83					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74908238	74908238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:74908238G>A	ENST00000262144.6	-	26	2924	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	932										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GACGATCCCCGCACAGCCACG	0.627000													14	39					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36868959	36868959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:36868959G>A	ENST00000325718.7	+	8	827	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	MLLT6_ENST00000378137.5_Missense_Mutation_p.E246K	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	246					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AAAGGACAAAGAACGCCTTAA	0.587000			T	MLL	AL								26	65					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229432	24229432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:24229432G>A	ENST00000379177.1	+	11	2784	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	ZFX_ENST00000539115.1_Missense_Mutation_p.R557Q|ZFX_ENST00000540034.1_Missense_Mutation_p.R825Q|ZFX_ENST00000304543.5_Missense_Mutation_p.R786Q|ZFX_ENST00000379188.3_Missense_Mutation_p.R786Q|ZFX_ENST00000338565.3_Missense_Mutation_p.R736Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.R786Q(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGGCTTCCGAAGACCTTCA	0.443000													44	85					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23316887	23316887	+	Translation_Start_Site	SNP	G	G	A	rs61754892		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:23316887G>A	ENST00000593635.1	+	0	184				ZNF730_ENST00000597761.2_Silent_p.A3A					zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TTCAGGGAGCGTTGACATTTA	0.373000													26	50					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785198	130785198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:130785198G>A	ENST00000265909.4	-	1	1206	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R213C	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	213	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACAACGCCACGCGTATAGGTG	0.577000													12	25					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395719	107395719	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:107395719C>G	ENST00000008527.5	-	4	1285	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	140	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCATTGAGTTCTATGATCCTA	0.338000													35	80					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:15928442G>A	ENST00000504595.1	+	3	1052	c.571G>A	c.(571-573)Gta>Ata	p.V191I	FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I|FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAAACCGTAACTGTCAG	0.627000													5	33					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77644815	77644815	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:77644815A>G	ENST00000407578.2	-	69	12121	c.11855T>C	c.(11854-11856)aTg>aCg	p.M3952T	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3914T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M3914T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATTCCAACCATATGTTCTTT	0.318000													42	157					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59821817	59821817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:59821817C>T	ENST00000259008.2	-	15	2500	c.2233G>A	c.(2233-2235)Gca>Aca	p.A745T	BRIP1_ENST00000577598.1_Missense_Mutation_p.A745T	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	745					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TATTTGATTGCGTCATAGTAC	0.323000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					53	150					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364056	42364056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:42364056C>T	ENST00000290472.3	-	15	1583	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	497	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGGAGGGACGAAGGCCCCG	0.602000													20	34					0	0	1	0	0
FBXO44	93611	broad.mit.edu	37	1	11716049	11716049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:11716049C>T	ENST00000376770.1	+	3	655	c.157C>T	c.(157-159)Cga>Tga	p.R53*	FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R53*|FBXO44_ENST00000251547.5_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000251546.4_Nonsense_Mutation_p.R53*	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	53					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTGCCTGCGAGAGGGCTT	0.637000													27	96					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7684004	7684004	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:7684004G>C	ENST00000256861.6	-	3	263	c.185C>G	c.(184-186)tCc>tGc	p.S62C	ITIH5_ENST00000397145.2_Missense_Mutation_p.S62C|ITIH5_ENST00000397146.2_Missense_Mutation_p.S62C|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	62	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGCATAACGGGAAATGATGGT	0.433000													24	65					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54542488	54542488	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:54542488C>T	ENST00000545554.1	+	7	3294	c.3294C>T	c.(3292-3294)caC>caT	p.H1098H	UNC13C_ENST00000260323.11_Silent_p.H1098H|UNC13C_ENST00000537900.1_Silent_p.H1096H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1098					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCATCCCACACAATTTTGAGG	0.502000													20	50					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748855	43748855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:43748855C>A	ENST00000263801.3	-	12	2188	c.1936G>T	c.(1936-1938)Gaa>Taa	p.E646*	TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E651*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	646					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCATAGCTTCCTCCTGATCT	0.473000								Other conserved DNA damage response genes					40	102					1.58521e-26	1.72664e-26	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27005865	27005865	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:27005865G>A	ENST00000314616.6	+	11	1516	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	SUPT6H_ENST00000347486.4_Silent_p.E411E	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	411					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCGTAAAGAGAACCTAACAC	0.522000													21	73					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413785	110413785	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:110413785A>C	ENST00000378402.5	+	14	1445	c.1341A>C	c.(1339-1341)agA>agC	p.R447S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	447					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)			CAACACAAAGATCAGATGATA	0.333000										HNSCC(38;0.096)			9	35					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111688459	111688459	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:111688459C>G	ENST00000435970.1	-	16	7114	c.6298G>C	c.(6298-6300)Gag>Cag	p.E2100Q	REV3L_ENST00000368802.3_Missense_Mutation_p.E2178Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E2178Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E2178Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2178					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACTAGAGGCTCTTGAGGCTCA	0.413000								DNA polymerases (catalytic subunits)					24	79					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43813678	43813678	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:43813678G>A	ENST00000382031.1	+	5	752	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	MAP1A_ENST00000300231.5_Missense_Mutation_p.G3S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G3S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	3						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCATGGACGGCGTGGCTGA	0.592000													26	58					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27064147	27064147	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:27064147C>T	ENST00000261191.7	-	15	2445	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ASUN_ENST00000539625.1_Missense_Mutation_p.E536K	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	637					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TCATCCATTTCAACAAGGGGT	0.413000													35	91					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													6	46					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381429	156381429	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:156381429T>C	ENST00000274532.2	-	2	453	c.397A>G	c.(397-399)Aga>Gga	p.R133G	TIMD4_ENST00000407087.3_Missense_Mutation_p.R133G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	133						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTTACCTCTCTGTAGATTC	0.502000													23	34					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934871	30934871	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:30934871C>T	ENST00000355537.3	+	2	549	c.402C>T	c.(400-402)ctC>ctT	p.L134L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L134L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGCCCACTCTGCGGCAAGC	0.627000													13	41					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54780193	54780193	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:54780193G>T	ENST00000218436.6	-	11	3272	c.3243C>A	c.(3241-3243)gaC>gaA	p.D1081E		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1081					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.D1081D(1)									GGGGGTCCCCGTCCACTGCAA	0.493000													13	45					0.0135373	0.0135837	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139410015	139410015	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139410015G>C	ENST00000277541.6	-	11	1898	c.1823C>G	c.(1822-1824)tCc>tGc	p.S608C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	608	EGF-like 16; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGCTGGCTGGAGCACTCGTT	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	26					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168054805	168054805	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:168054805G>A	ENST00000367838.1	-	8	1867	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	GPR161_ENST00000546300.1_Silent_p.I404I|GPR161_ENST00000537209.1_Silent_p.I538I|GPR161_ENST00000271357.5_Silent_p.I518I|GPR161_ENST00000361697.2_Silent_p.I518I|GPR161_ENST00000367836.1_Silent_p.I386I|GPR161_ENST00000367835.1_Silent_p.I518I|GPR161_ENST00000539777.1_Silent_p.I440I	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	518					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTCCTTCTTCGATGCTCTGCA	0.652000													24	87					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65393140	65393140	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:65393140C>T	ENST00000355703.3	+	19	3692	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1051						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCTTGCACTCCGACCTGGTGA	0.627000													3	20					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919122	21919122	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:21919122C>T	ENST00000240662.2	-	3	1155	c.810G>A	c.(808-810)gtG>gtA	p.V270V	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	270						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GCTTGTCAATCACGTGGCAGA	0.478000													11	37					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237446	100237446	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:100237446G>A	ENST00000305046.8	-	4	340	c.273C>T	c.(271-273)atC>atT	p.I91I	ADH1B_ENST00000394887.3_Silent_p.I51I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	91					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAAAGAGCGGGATGACTTTAT	0.373000													17	47					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160114916	160114916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:160114916G>A	ENST00000327245.5	-	5	1012	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	56					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATCTTGATGGAATATGCTG	0.522000													112	65					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281947	142281947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:142281947G>C	ENST00000350721.4	-	4	418	c.297C>G	c.(295-297)ttC>ttG	p.F99L	ATR_ENST00000383101.3_Missense_Mutation_p.F99L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	99					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCAATTACTGAATTCTTTGA	0.313000								Other conserved DNA damage response genes					46	125					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95558407	95558407	+	RNA	SNP	A	A	G	rs5006801		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:95558407A>G	ENST00000568768.1	-	0	476																											CTCAAAACAGAATGCATCTGG	0.463000													3	34					0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72767908	72767908	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:72767908G>A	ENST00000357814.3	-	7	652	c.579C>T	c.(577-579)caC>caT	p.H193H	NAT9_ENST00000578822.1_Silent_p.H198H|NAT9_ENST00000583757.1_3'UTR|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000581136.1_Silent_p.H188H|NAT9_ENST00000580301.1_Silent_p.H192H|NAT9_ENST00000580632.1_Silent_p.H193H|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000582870.1_Silent_p.H197H	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	193						protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						TCTCTTCCACGTGGCTGGTCT	0.592000													18	40					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139747802	139747802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139747802G>A	ENST00000445819.1	+	3	270	c.220G>A	c.(220-222)Ggc>Agc	p.G74S	MAMDC4_ENST00000317446.2_Missense_Mutation_p.G74S|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	74	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGACCCCTGCGGCTGGCGGGA	0.677000													16	64					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179197667	179197667	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:179197667G>A	ENST00000190611.4	+	8	932	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	OSBPL6_ENST00000315022.2_Missense_Mutation_p.E165K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E186K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E186K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E186K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E186K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E186K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	186					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCGTCAGAATGAAATTGTGAG	0.418000													33	89					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19754274	19754274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:19754274C>T	ENST00000332710.4	+	9	1501	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	TBX1_ENST00000329705.7_Intron|TBX1_ENST00000359500.3_Intron	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	71					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCACCACCACCCCGTGAGTCC	0.776000													6	11					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489544	133489544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:133489544G>A	ENST00000409261.1	-	17	5582	c.5209C>T	c.(5209-5211)Cgc>Tgc	p.R1737C	NCKAP5_ENST00000409213.1_Missense_Mutation_p.R418C|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R418C|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1737C|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1737							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						CATAGGTAGCGTCCTGTCGAG	0.547000													16	37					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102510384	102510384	+	Splice_Site	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:102510384C>T	ENST00000360184.4	+	70	12848		c.e70+2		RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACGGCCAAGGCAAGTGTGGGC	0.587000													7	29					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766424	77766424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:77766424C>G	ENST00000521891.2	+	10	7715	c.7267C>G	c.(7267-7269)Caa>Gaa	p.Q2423E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2397E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2378E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2378E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2378	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCCCCTTCTCAAGGCACCAA	0.562000										HNSCC(33;0.089)			3	12					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17411961	17411961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:17411961C>A	ENST00000247706.3	-	2	704	c.465G>T	c.(463-465)aaG>aaT	p.K155N	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	155							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGATGGTCCTCTTGGGGCGCC	0.682000													30	67					2.12542e-12	2.24818e-12	1	1	0
SPEN	23013	broad.mit.edu	37	1	16258569	16258569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:16258569C>T	ENST00000375759.3	+	11	6038	c.5834C>T	c.(5833-5835)cCc>cTc	p.P1945L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1945					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCAGCGGTTCCCACCACCCCT	0.587000													20	70					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511058	61511058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:61511058C>T	ENST00000266070.4	-	16	6575	c.6250G>A	c.(6250-6252)Gaa>Aaa	p.E2084K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2084K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2084					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCTCCCTTCGAAAGTCTGG	0.672000													85	185					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925460	67925460	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:67925460C>T	ENST00000304363.4	-	11	2706	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTATTTTCCTCATCTCGTTTT	0.408000													62	169					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41455118	41455118	+	RNA	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:41455118G>T	ENST00000599198.1	+	0	1509					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CAACATACCAGATCTGCTTCC	0.577000													10	26					4.68919e-08	4.88944e-08	1	1	0
ATXN2	6311	broad.mit.edu	37	12	111891606	111891606	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:111891606T>C	ENST00000377617.3	-	24	3949	c.3788A>G	c.(3787-3789)cAt>cGt	p.H1263R	ATXN2_ENST00000389153.4_Missense_Mutation_p.H1000R|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.H956R|ATXN2_ENST00000542287.2_Missense_Mutation_p.H1023R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1263					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CATTGGCGCATGGGCAGTTGG	0.542000													9	35					0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131292	136131292	+	RNA	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:136131292C>T	ENST00000453660.2	-	0	836							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CGCTGCACCTCTTGCACCGAC	0.657000													10	35					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:202149751C>T	ENST00000358485.4	+	8	1388	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q339*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478000										HNSCC(4;0.00038)			38	99					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739723	21739723	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:21739723C>G	ENST00000399496.3	+	5	994	c.829C>G	c.(829-831)Cct>Gct	p.P277A	RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000581397.1_Missense_Mutation_p.P277A|CABYR_ENST00000399499.1_Missense_Mutation_p.P277A|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Missense_Mutation_p.P179A	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GAAACCTCTTCCTGGACATGC	0.458000													28	65					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152771515	152771515	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:152771515C>T	ENST00000331595.4	+	4	732	c.546C>T	c.(544-546)ctC>ctT	p.L182L	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Silent_p.L121L	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	182						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCGGGCTCCGGAACATGA	0.612000													22	39					0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332641	16332641	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:16332641G>T	ENST00000329454.2	+	2	378	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	104										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATGCCTTGCCCAGGCCAG	0.647000													35	66					4.34311e-12	4.56104e-12	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101796853	101796853	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:101796853C>T	ENST00000375001.3	+	17	2489	c.2066C>T	c.(2065-2067)tCa>tTa	p.S689L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	689	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTAATGGCTCAGTTGGTGAA	0.353000													10	50					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108412183	108412183	+	Missense_Mutation	SNP	G	G	T	rs150967356	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:108412183G>T	ENST00000263054.6	-	18	2439	c.2432C>A	c.(2431-2433)gCg>gAg	p.A811E	SORCS1_ENST00000344440.6_Missense_Mutation_p.A811E|SORCS1_ENST00000369698.1_Missense_Mutation_p.A346E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.A811V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTTGTTCCGCTGTCAGCTT	0.522000													18	56					8.34094e-07	8.63567e-07	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83250975	83250975	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:83250975C>T	ENST00000549919.1	+	3	2057	c.252C>T	c.(250-252)gtC>gtT	p.V84V	TMTC2_ENST00000548305.1_Silent_p.V90V|TMTC2_ENST00000321196.3_Silent_p.V90V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	90						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACCATCTTGTCAATGTCCTGT	0.517000													39	91					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49028032	49028032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:49028032G>C	ENST00000343546.4	+	1	711	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	P4HTM_ENST00000383729.4_Missense_Mutation_p.E115Q	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	115						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CACCCGGCTGGAGGGCATCAA	0.741000													5	10					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91993762	91993762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:91993762C>A	ENST00000450295.1	-	16	3222	c.2446G>T	c.(2446-2448)Gag>Tag	p.E816*	SEMA4D_ENST00000438547.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000356444.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	816					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCTCGGTCTCATAGCCGGTG	0.587000													14	63					2.32078e-09	2.42854e-09	1	1	0
GRID2	2895	broad.mit.edu	37	4	94376877	94376877	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:94376877C>T	ENST00000282020.4	+	11	1868	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	GRID2_ENST00000510992.1_Missense_Mutation_p.T442M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	537					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T537M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTGGACTTTACGACACGTTAC	0.433000													24	97					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78183639	78183639	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:78183639G>C	ENST00000370793.1	-	18	2270	c.1924C>G	c.(1924-1926)Ctt>Gtt	p.L642V	USP33_ENST00000370794.3_Missense_Mutation_p.L611V|USP33_ENST00000370792.3_Missense_Mutation_p.L634V|USP33_ENST00000357428.1_Missense_Mutation_p.L642V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	642					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AATGGCTGAAGATCCAAGCCT	0.378000													44	112					0	0	1	0	0
GPR135	64582	broad.mit.edu	37	14	59931024	59931024	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:59931024C>T	ENST00000395116.1	-	1	1036	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	307						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGCGCACGTCCGACAGGCGCA	0.657000													6	23					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30722669	30722669	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:30722669C>G	ENST00000215790.7	-	1	366	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E68Q|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	68						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.E68K(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACGCGCCCTCGGCGCCCTGC	0.716000													13	21					0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20717311	20717311	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:20717311G>A	ENST00000241125.3	-	2	293	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	39					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CCTCCGCCGCGGCCCCCAGCA	0.602000													7	17					0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	18979447	18979447	+	RNA	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:18979447G>T	ENST00000438934.1	+	0	2798				DGCR5_ENST00000440005.2_RNA																							CCCTGCTGGAGATGGAGAAGC	0.567000													15	23					2.31682e-05	2.37353e-05	1	1	0
ZPBP	11055	broad.mit.edu	37	7	50121408	50121408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:50121408G>A	ENST00000046087.2	-	3	365	c.296C>T	c.(295-297)tCa>tTa	p.S99L	ZPBP_ENST00000419417.1_Missense_Mutation_p.S99L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	99					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CCATTGGAATGATGGGTCTAT	0.358000													17	66					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97112235	97112235	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:97112235G>T	ENST00000524981.3	+	16	2092	c.2092G>T	c.(2092-2094)Gat>Tat	p.D698Y				Q6ZTY8	CL063_HUMAN		672										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATATTCAAAGGATGATGGAAG	0.264000													23	85					2.21704e-12	2.33666e-12	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66455760	66455760	+	Missense_Mutation	SNP	C	C	T	rs143781509	by1000genomes	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:66455760C>T	ENST00000533211.1	-	32	6585	c.6254G>A	c.(6253-6255)cGa>cAa	p.R2085Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2085Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2085Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2085					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ctttctctttcgctccttctc	0.592000													7	13					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296368	29296368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:29296368G>A	ENST00000331664.5	-	1	759	c.760C>T	c.(760-762)Cct>Tct	p.P254S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	254					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						TTCTTCAAAGGCCAAGCCAGA	0.552000													29	103					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551281	125551281	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:125551281C>G	ENST00000373680.2	+	1	132	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R24C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CATCACAAATCGCTGGGACCT	0.602000													25	74					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110034336	110034336	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:110034336G>A	ENST00000369870.3	+	10	2166	c.2151G>A	c.(2149-2151)ctG>ctA	p.L717L	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	717										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTCTACACTGAAGGTACCAG	0.592000													3	17					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34505468	34505468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:34505468C>T	ENST00000374012.3	+	13	2017	c.1888C>T	c.(1888-1890)Caa>Taa	p.Q630*	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGAGTATGGCCAAGATGTGGA	0.478000													5	21					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	685847	685847	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:685847G>C	ENST00000304478.4	+	1	335	c.229G>C	c.(229-231)Gag>Cag	p.E77Q		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	77					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ACAACCGCTCGAGGAGTCCGC	0.617000													9	30					0	0	1	0	0
SPINK1	6690	broad.mit.edu	37	5	147207656	147207656	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:147207656C>T	ENST00000510027.2	-	3	180	c.123G>A	c.(121-123)aaG>aaA	p.K41K	SPINK1_ENST00000296695.5_Silent_p.K41K			P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	41	Kazal-like.	Reactive bond.				extracellular region	protein binding|serine-type endopeptidase inhibitor activity			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCATATATCTTGGTGCATC	0.343000									Hereditary Pancreatitis				7	71					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272156	43272156	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:43272156C>T	ENST00000263246.3	-	10	1536	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	PACSIN2_ENST00000407585.1_Silent_p.L404L|PACSIN2_ENST00000402229.1_Silent_p.L445L|PACSIN2_ENST00000337959.4_Silent_p.L404L|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000403744.3_Silent_p.L445L	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	445	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CCTTGAAGCTCAGCTCATCAT	0.582000													11	41					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150300866	150300866	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:150300866G>A	ENST00000324862.6	+	4	529	c.364G>A	c.(364-366)Gag>Aag	p.E122K	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Intron	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	122					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGTGGAAGAAGAGCCAGAGGT	0.498000													44	136					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4907160	4907160	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:4907160C>T	ENST00000320785.5	+	10	1170	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	271	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GAGCCAACATCAATAAGTCCC	0.532000													22	74					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135941933	135941933	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:135941933G>A	ENST00000372080.4	+	5	580	c.564G>A	c.(562-564)cgG>cgA	p.R188R	CEL_ENST00000351304.7_Silent_p.R185R	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	185					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATGGCCTTCGGGATCAGCACA	0.637000													34	134					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57723159	57723159	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:57723159G>C	ENST00000263095.6	+	4	1108	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E232Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TAAGCCCTATGAATGCACAGA	0.423000													22	67					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3680321	3680321	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:3680321G>A	ENST00000294600.2	+	8	1457	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	458								p.R458Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACCCAGCTGCGAAAGATCAAT	0.567000													26	65					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57620700	57620700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:57620700C>T	ENST00000374888.1	+	1	2432	c.2219C>T	c.(2218-2220)tCg>tTg	p.S740L		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S740L(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTGACTCCTTCGAGCACCCTT	0.502000													24	65					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918983	21918983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:21918983C>A	ENST00000240662.2	-	3	1294	c.949G>T	c.(949-951)Gag>Tag	p.E317*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	317						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CATTGGATCTCCTCAGCAATG	0.478000													27	68					3.6726e-16	3.92727e-16	1	1	0
EPG5	57724	broad.mit.edu	37	18	43438676	43438676	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:43438676C>G	ENST00000282041.5	-	41	7115	c.7081G>C	c.(7081-7083)Gag>Cag	p.E2361Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2361					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						TGCAGGAACTCTTCCATGGTG	0.458000													21	47					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48255618	48255618	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:48255618G>A	ENST00000400384.2	+	6	2194	c.1158G>A	c.(1156-1158)tcG>tcA	p.S386S	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.S175S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	386					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCGCGGGTTCGGCGCCACTGG	0.697000													9	19					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676523	53676523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:53676523C>T	ENST00000371486.3	+	4	1692	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	393					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGACAGCACTCAGACCCCTGC	0.507000													9	21					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44081461	44081461	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:44081461G>C	ENST00000378832.1	+	14	1754	c.1698G>C	c.(1696-1698)atG>atC	p.M566I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	566							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGATGCAATGAGGGAGTAGG	0.562000													80	181					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	42					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91034630	91034630	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:91034630G>A	ENST00000268182.5	+	34	4438	c.4314G>A	c.(4312-4314)atG>atA	p.M1438I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.M866I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1438	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGACAAGATGAAAAAGTCAA	0.428000													9	71					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868557	150868557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:150868557G>C	ENST00000370353.3	+	3	487	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	PRRG3_ENST00000370354.1_Missense_Mutation_p.E41Q|PRRG3_ENST00000538575.1_Missense_Mutation_p.E33Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	33	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCATCGAGCGAGAGTG	0.562000													18	69					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327555	16327555	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:16327555C>T	ENST00000244769.4	-	8	1923	c.987G>A	c.(985-987)gaG>gaA	p.E329E	ATXN1_ENST00000436367.1_Silent_p.E329E	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	329					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCGGCTCTTCTCCATCTCAC	0.677000													28	59					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328434	152328434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:152328434C>T	ENST00000388718.5	-	3	1900	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	610	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCTAGACTCATGTTGTCCA	0.512000													20	295					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21812113	21812113	+	RNA	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:21812113C>G	ENST00000546471.1	-	0	1745																											TTACTTGGATCCTGCAAGTTT	0.378000													25	91					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033563	110033563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:110033563G>A	ENST00000369870.3	+	10	1393	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	460										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCGGCAGCTGAACCTCCAGC	0.577000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	84					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	89028799	89028799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:89028799C>T	ENST00000283646.4	+	4	461	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	136					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TCCGCAGGCCCGCCAGCTCAT	0.512000													10	33					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353089	33353089	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:33353089G>A	ENST00000023064.4	-	6	830	c.639C>T	c.(637-639)ggC>ggT	p.G213G	SLC7A9_ENST00000590341.1_Silent_p.G213G|SLC7A9_ENST00000587772.1_Silent_p.G213G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	213					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ACAGCTGGGCGCCCTCGAAAG	0.537000													15	65					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73150995	73150995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:73150995C>T	ENST00000222800.3	-	6	911	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000437775.2_Missense_Mutation_p.R274Q|ABHD11_ENST00000395147.4_Missense_Mutation_p.R224Q	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	281							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGGGAAGAGCCGCATAATCTC	0.607000													15	71					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50091150	50091150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:50091150G>C	ENST00000281631.5	+	12	1485	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	PARP8_ENST00000503750.2_Missense_Mutation_p.E443Q|PARP8_ENST00000514342.2_Missense_Mutation_p.E196Q|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.E443Q|PARP8_ENST00000505554.1_Missense_Mutation_p.E422Q|PARP8_ENST00000505697.2_Missense_Mutation_p.E443Q	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	443						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATCCAAAACTGAGCTTTTCAA	0.443000													31	94					0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204119045	204119045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:204119045C>T	ENST00000367199.2	-	2	630	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ETNK2_ENST00000367202.4_Missense_Mutation_p.E102K|ETNK2_ENST00000367201.3_Missense_Mutation_p.E102K			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	102							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGTCCTCCTCCACATAGCAG	0.627000													3	7					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603676	28603676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:28603676G>A	ENST00000533150.1	-	3	1700	c.584C>T	c.(583-585)tCg>tTg	p.S195L	SULT1A2_ENST00000335715.4_Missense_Mutation_p.S228L|SULT1A2_ENST00000395630.1_Missense_Mutation_p.S228L			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	228					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CTCCTTGAACGACGTGTGCTC	0.547000													48	101					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801588	148801588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:148801588C>T	ENST00000378061.2	-	4	1507	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	459					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCTGGTGGGCGCGCATGGCG	0.662000													25	64					0	0	1	0	0
ERP44	23071	broad.mit.edu	37	9	102747299	102747299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:102747299G>A	ENST00000262455.6	-	11	1268	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	357					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AATTCTCTGTGCAGTTTTCCA	0.368000													15	48					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121132062	121132062	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:121132062G>A	ENST00000273666.6	+	25	3349	c.3078G>A	c.(3076-3078)agG>agA	p.R1026R	STXBP5L_ENST00000471454.1_Silent_p.R1002R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1026					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGACATGAGGATAGCACGAA	0.388000													28	73					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693207	69693207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:69693207C>G	ENST00000265403.7	+	5	1275	c.1248C>G	c.(1246-1248)ttC>ttG	p.F416L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F332L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	416					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGTGGACTTCAACACAATGT	0.403000													57	181					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33296955	33296955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:33296955C>T	ENST00000242067.6	+	6	1071	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	BBS9_ENST00000396127.2_Missense_Mutation_p.L184F|BBS9_ENST00000350941.3_Missense_Mutation_p.L184F|BBS9_ENST00000355070.2_Missense_Mutation_p.L184F|BBS9_ENST00000354265.4_Missense_Mutation_p.L184F|BBS9_ENST00000425508.2_Missense_Mutation_p.L139F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	184					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCCTGGTCCTCTTGCCTACAG	0.428000									Bardet-Biedl syndrome				51	96					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977984	46977984	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:46977984T>C	ENST00000371956.4	+	4	982	c.967T>C	c.(967-969)Tcc>Ccc	p.S323P	DMBX1_ENST00000360032.3_Missense_Mutation_p.S318P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	323					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTACTACCAGTCCCTGTCAGC	0.687000													14	30					0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161010637	161010637	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:161010637G>A	ENST00000368021.3	-	8	790	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	USF1_ENST00000435396.1_Missense_Mutation_p.R137W|USF1_ENST00000368019.1_Missense_Mutation_p.R168W|USF1_ENST00000368020.1_Missense_Mutation_p.R196W	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	196					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCTCATCCCGAGTCGTCCGG	0.502000													25	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179545893	179545893	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:179545893C>T	ENST00000589042.1	-	138	33477	c.33253G>A	c.(33253-33255)Gaa>Aaa	p.E11085K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9841K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10768K|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10768	Glu-rich.|Pro-rich.						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)			TTTGGTTCTTCAGGCACTTTA	0.308000													18	42					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586979	42586979	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:42586979G>A	ENST00000289957.2	+	5	657	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	177					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGGACTTATGATGGCACCAT	0.478000													19	60					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70310999	70310999	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:70310999C>T	ENST00000261772.8	-	3	346	c.203G>A	c.(202-204)aGa>aAa	p.R68K		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	68					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	ATTGGCAGCTCTGCTCAGCTT	0.483000													24	55					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149139	34149139	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:34149139A>C	ENST00000346193.3	-	1	1308	c.1257T>G	c.(1255-1257)agT>agG	p.S419R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	419										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGACACCTGACTAGTGTCGG	0.547000													19	39					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118228716	118228716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:118228716C>G	ENST00000369230.3	+	9	1093	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	316					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTCTTTTGTTCCAAAGAAGGT	0.313000													8	68					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135947076	135947076	+	Silent	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:135947076T>C	ENST00000372080.4	+	11	2212	c.2196T>C	c.(2194-2196)ggT>ggC	p.G732G	CEL_ENST00000351304.7_Silent_p.G663G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	729	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCCCACGGGTGACTCTGAGG	0.677000													17	20					0	0	1	0	0
CDC37L1	55664	broad.mit.edu	37	9	4679816	4679816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:4679816G>T	ENST00000381854.3	+	1	251	c.49G>T	c.(49-51)Gag>Tag	p.E17*	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Nonsense_Mutation_p.E17*	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	17	Self-association.			E -> G (in Ref. 1; BAA91304).		cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CCCTCGGGCCGAGGGTGAGGC	0.697000											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	23					4.92203e-23	5.3216e-23	1	1	0
PHKA2	5256	broad.mit.edu	37	X	18924674	18924674	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:18924674G>C	ENST00000379942.4	-	25	3410	c.2745C>G	c.(2743-2745)ctC>ctG	p.L915L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	915					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTCCAATCCGGAGTCTCAGCA	0.597000													35	142					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537573	95537573	+	Silent	SNP	G	G	A	rs112496617		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:95537573G>A	ENST00000295201.4	+	1	386	c.249G>A	c.(247-249)acG>acA	p.T83T	TEKT4_ENST00000427593.2_Silent_p.T83T|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	83			T -> M (in dbSNP:rs4854235).		cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGCAGCGCACGCAGCAAGACT	0.697000													7	26					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27592008	27592008	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:27592008G>A	ENST00000493344.2	-	3	658	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	EIF2B4_ENST00000347454.4_Missense_Mutation_p.R95W|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R115W|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R94W			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	95					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTTACTCCGACCAGCTGGA	0.542000													32	113					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79752783	79752783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:79752783C>T	ENST00000338008.5	+	13	3995	c.3815C>T	c.(3814-3816)tCt>tTt	p.S1272F	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S1272F|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S1272F	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1272					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GTACTAAATTCTTCCAATGAG	0.338000													49	29					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949998	198949998	+	Missense_Mutation	SNP	C	C	T	rs72556386		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:198949998C>T	ENST00000428675.1	+	2	2155	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	PLCL1_ENST00000437704.2_Missense_Mutation_p.S488F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	586	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGGGAGCTCTCTGATTTGGTG	0.388000													19	68					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10384545	10384545	+	Silent	SNP	C	C	T	rs144283368		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:10384545C>T	ENST00000397077.1	-	18	3248	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L	ATP2B2_ENST00000352432.4_Silent_p.L936L|ATP2B2_ENST00000343816.4_Silent_p.L922L|ATP2B2_ENST00000383800.4_Silent_p.L891L|ATP2B2_ENST00000360273.2_Silent_p.L936L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	936					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACGGCTTCCTCAGCAGCAGGG	0.612000													16	42					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105178206	105178206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:105178206G>A	ENST00000262903.4	-	23	2875	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	HACE1_ENST00000369125.2_Missense_Mutation_p.P652S|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	867	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAAGATTTGGAGTATATGGC	0.358000													18	50					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691054	39691054	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:39691054G>A	ENST00000339852.4	+	5	639	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	206	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GCCGACCGCCGCACGGTCATT	0.682000													44	86					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52361766	52361766	+	Silent	SNP	C	C	T	rs144430073	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:52361766C>T	ENST00000296585.5	+	15	2045	c.1902C>T	c.(1900-1902)acC>acT	p.T634T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	634					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATTCCATCACCGATGTGTCTA	0.448000													81	50					0	0	1	0	0
RAB11B	9230	broad.mit.edu	37	19	8464939	8464939	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:8464939C>T	ENST00000328024.6	+	2	451	c.233C>T	c.(232-234)tCc>tTc	p.S78F	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Missense_Mutation_p.S78F	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	78					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GCCATCACCTCCGCGTGCGTG	0.672000													12	35					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34240936	34240936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:34240936G>A	ENST00000374114.3	-	3	2572	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	RBM12_ENST00000359646.1_Missense_Mutation_p.P770L|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P770L|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	770	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCAAAACCCGGAACATCCAG	0.557000													29	104					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138162	64138162	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:64138162G>A	ENST00000528057.1	+	16	2152	c.2064G>A	c.(2062-2064)ggG>ggA	p.G688G	RPS6KA4_ENST00000294261.4_Silent_p.G447G|RPS6KA4_ENST00000334205.4_Silent_p.G695G	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	695					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						AGTCCTCTGGGCCCGCAGTGC	0.706000													6	7					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83770409	83770409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:83770409G>A	ENST00000398309.2	-	6	1023	c.553C>T	c.(553-555)Cga>Tga	p.R185*	DLG2_ENST00000376104.2_Nonsense_Mutation_p.R290*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.R124*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.R224*|DLG2_ENST00000532653.1_Nonsense_Mutation_p.R185*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.R185*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.R152*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.R134*|DLG2_ENST00000398301.2_Nonsense_Mutation_p.R224*|DLG2_ENST00000376106.3_De_novo_Start_OutOfFrame|DLG2_ENST00000543673.1_Nonsense_Mutation_p.R290*|DLG2_ENST00000537455.1_De_novo_Start_OutOfFrame	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	185						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AAAATAGGTCGTCTTCTACGC	0.463000													16	64					0	0	1	0	0
RP1-125I3.2	0	broad.mit.edu	37	1	26186960	26186960	+	RNA	DEL	T	T	-			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:26186960delT	ENST00000455431.1	+	0	263																											AATTTTGTAATTTTTTTTTTT	0.552													3	2	---	---	---	---					
TSGA10	80705	broad.mit.edu	37	2	99697797	99697797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:99697797delT	ENST00000393483.3	-	11	1519	c.675delA	c.(673-675)aafs	p.K225fs	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000410001.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000539964.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000355053.4_Frame_Shift_Del_p.K225fs	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	225					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GTAGCTCATATTTTTTCTTAG	0.279													22	61	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					
RPL34P33	730061	broad.mit.edu	37	19	22882448	22882449	+	RNA	INS	-	-	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:22882448_22882449insA	ENST00000601860.1	-	0	340				CTC-457E21.9_ENST00000597533.1_RNA																							TTGAGGAGCAGAAAATCGTTGT	0.396													8	28	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53562382	53562384	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:53562382_53562384delCTT	ENST00000342160.3	-	80	13067_13069	c.12610_12612delAAG	c.(12610-12612)del	p.K4204del	HUWE1_ENST00000262854.6_In_Frame_Del_p.K4204del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4204	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.K4094del(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTACATACTCCTTCTTATTCTCC	0.438													25	57	---	---	---	---