Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
APOBR	55911	broad.mit.edu	37	16	28508933	28508933	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:28508933C>T	uc002dqb.2	+	1	2604	c.2571C>T	c.(2569-2571)ccC>ccT	p.P857P	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Silent_p.P386P	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	848	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGCTGGATCCCGCGGGCTCCC	0.632000														9			5		0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145638194	145638194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:145638194C>T	uc003zcq.3	-	10	1864	c.1764G>A	c.(1762-1764)tgG>tgA	p.W588*	SLC39A4_uc003zcm.1_Nonsense_Mutation_p.W90*|SLC39A4_uc003zcn.3_Nonsense_Mutation_p.W90*|SLC39A4_uc003zco.3_Nonsense_Mutation_p.W312*|SLC39A4_uc003zcp.3_Nonsense_Mutation_p.W563*	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	588						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CTGCCAGGATCCAGGCCTCGC	0.667000														37			19		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145107471	145107471	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:145107471G>A	uc003zar.3	-	22	3266	c.3184C>T	c.(3184-3186)Ccc>Tcc	p.P1062S		NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	1062							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GAGCCTCGGGGAATGACCACG	0.726000														26			7		0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97361640	97361640	+	Splice_Site	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:97361640A>G	uc010fia.3	+	35	4138	c.4138_splice	c.e35+1	p.T1380_splice	FER1L5_uc002sws.4_Splice_Site_p.T98_splice|FER1L5_uc010fib.1_Splice_Site|FER1L5_uc010yus.2_Splice_Site_p.T97_splice	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1380						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAAAGCTTCCAAGTACGGCCC	0.632000														17			3		0	0	1	0	0
HAND1	9421	broad.mit.edu	37	5	153855435	153855435	+	Silent	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:153855435T>A	uc003lvn.3	-	1	835	c.579A>T	c.(577-579)ccA>ccT	p.P193P		NM_004821	NP_004812	O96004	HAND1_HUMAN	Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA.	193					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	DNA binding|bHLH transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCTCGACTGGGCCCAGGG	0.597000														54			15		0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2233846	2233846	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:2233846G>A	uc002fuj.3	-	9	2690	c.1733C>T	c.(1732-1734)cCc>cTc	p.P578L	SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	578					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGCAATCAAGGGTGTTCCTTG	0.468000														39			10		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188800	57188800	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:57188800G>A	uc010kzo.3	-	4	593	c.322C>T	c.(322-324)Caa>Taa	p.Q108*		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATTACTTTTTGGAGTGAATCT	0.408000														52			19		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700856	192700856	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:192700856C>T	uc002utb.3	-	1	1426	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	357						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGTCGCCTTCTCAGCAGCCT	0.572000														130			28		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432225	6432225	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:6432225G>A	uc001mdb.1	-	1	453	c.353C>T	c.(352-354)tCt>tTt	p.S118F	APBB1_uc001mdc.1_Missense_Mutation_p.S118F|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	118					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTCCAGCTCAGAGTACAGGTG	0.607000														236			67		0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211842481	211842481	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:211842481A>G	uc001hir.2	-	5	1110	c.959T>C	c.(958-960)cTc>cCc	p.L320P	NEK2_uc021piq.1_Missense_Mutation_p.L320P|NEK2_uc021pir.1_Missense_Mutation_p.L70P|NEK2_uc001his.4_Missense_Mutation_p.L320P|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	320	Interaction with PCNT.|Leucine-zipper.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TCTTGCTTTGAGAGCTCGCTC	0.453000														209			63		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71500219	71500219	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:71500219A>C	uc011caw.1	+	5	686	c.405A>C	c.(403-405)caA>caC	p.Q135H		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	135					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCCACCACAAAAGCGGCCTT	0.483000														33			9		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100201320	100201320	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:100201320C>T	uc003hur.2	-	6	1059	c.945G>A	c.(943-945)tgG>tgA	p.W315*	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	315					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TAGCTCCCTTCCAGGTACGTC	0.468000														127			27		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249974	52249974	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:52249974G>A	uc021uyn.1	-	2	420	c.274C>T	c.(274-276)Cct>Tct	p.P92S	FPR1_uc002pxq.3_Missense_Mutation_p.P92S|FPR1_uc021uyo.1_Missense_Mutation_p.P92S	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	92					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGCCGAAAGGCCAATGTCCT	0.517000														62			17		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534639	13534639	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:13534639C>T	uc001imm.2	-	4	950	c.653G>A	c.(652-654)gGc>gAc	p.G218D	BEND7_uc001imo.4_Missense_Mutation_p.G231D	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	270	Poly-Lys.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CAGAACAATGCCGAATCCTAG	0.483000														74			29		0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85665947	85665947	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:85665947T>A	uc009wcm.3	-	0	782	c.733A>T	c.(733-735)Att>Ttt	p.I245F	SYDE2_uc001dku.4_Missense_Mutation_p.I245F	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	245					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GTCAGCGTAATTCTTTGGTCT	0.512000														59			15		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125033	104125033	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:104125033G>A	uc010mtd.3	-	3	1043	c.934C>T	c.(934-936)Cct>Tct	p.P312S	BAAT_uc004bbd.4_Missense_Mutation_p.P312S	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	312					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCTTCAATAGGAAACAAATAT	0.453000														79			9		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137269	40137269	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:40137269C>T	uc021qgf.1	-	0	574	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	LRRC4C_uc001mxc.1_Missense_Mutation_p.A188T|LRRC4C_uc001mxd.1_Missense_Mutation_p.A188T|LRRC4C_uc001mxa.1_Missense_Mutation_p.A192T|LRRC4C_uc001mxb.1_Missense_Mutation_p.A188T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	192					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCTTCAAAGGCACCTTCTGAG	0.443000														47			4		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113237052	113237052	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:113237052C>T	uc003ynu.3	-	70	11231	c.11072G>A	c.(11071-11073)gGg>gAg	p.G3691E	CSMD3_uc003yns.3_Missense_Mutation_p.G2893E|CSMD3_uc003ynt.3_Missense_Mutation_p.G3651E|CSMD3_uc011lhx.2_Missense_Mutation_p.G3522E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3691						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCGCCTTCCCTTCCACTGA	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				114			74		0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474442	145474442	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:145474442C>T	uc021ouy.1	+	0	1114	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Missense_Mutation_p.P372S	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	372	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTGACCCTCCCTCCAGCCGG	0.692000														31			4		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14808037	14808037	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:14808037C>T	uc003zlm.3	-	17	3805	c.2989G>A	c.(2989-2991)Gga>Aga	p.G997R	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	997					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGATTGGGTCCATTGTAGCAA	0.493000														73			23		0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64717902	64717902	+	Splice_Site	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:64717902C>T	uc001ocb.1	-	4	212	c.148_splice	c.e4-1	p.D50_splice	C11orf85_uc001occ.1_Splice_Site|C11orf85_uc001ocd.1_Intron	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA.	50										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						CGGACAGAATCCTGAAAAACA	0.358000														28			5		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875217	96875217	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:96875217G>A	uc001yfn.2	+	3	481	c.437G>A	c.(436-438)cGa>cAa	p.R146Q		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	146					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTTGAAAAGCGAAAGCTATTT	0.468000														21			14		0	0	1	0	0
IL18	3606	broad.mit.edu	37	11	112014327	112014327	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:112014327C>T	uc001pnb.2	-	5	794	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	IL18_uc001pna.2_Missense_Mutation_p.E166K|IL18_uc009yym.2_Missense_Mutation_p.E188K	NM_001562	NP_001553	Q14116	IL18_HUMAN	Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), transcript variant 1, mRNA.	192					T-helper 1 type immune response|angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of NK T cell proliferation|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|regulation of cell adhesion|sleep|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AGCTAGTCTTCGTTTTGAACA	0.443000														8			3		0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752246	7752246	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7752246G>A	uc002gix.3	+	0	1383	c.546G>A	c.(544-546)cgG>cgA	p.R182R	KDM6B_uc002giw.1_Silent_p.R880R	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	880					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCTGGGCCCGGGAGCGCAGGG	0.721000														24			9		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180041087	180041087	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:180041087G>A	uc003mlz.4	-	23	3391	c.3312C>T	c.(3310-3312)ctC>ctT	p.L1104L	FLT4_uc003mma.4_Silent_p.L1104L	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1104	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCTCCCAGAGAAGCACCC	0.622000														64			19		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133914439	133914439	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:133914439G>A	uc004caa.1	+	5	1263	c.1165_splice	c.e5+1	p.G389_splice		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	389	Laminin EGF-like 3.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAGTCGGCAGGTGAGTGGAC	0.627000														37			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073956	9073956	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9073956A>C	uc002mkp.3	-	2	13694	c.13490T>G	c.(13489-13491)tTg>tGg	p.L4497W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4499	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGTGTTCAACATATCTGT	0.453000														74			21		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47219444	47219444	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:47219444G>A	uc002ion.2	+	2	502	c.443G>A	c.(442-444)gGa>gAa	p.G148E	B4GALNT2_uc010wlt.1_Missense_Mutation_p.G62E|B4GALNT2_uc010wlu.1_Missense_Mutation_p.G88E	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	148					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AAAGAGCAGGGAGGTTACAAC	0.512000														80			13		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201915405	201915405	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:201915405C>T	uc021phl.1	-	0	312	c.64G>A	c.(64-66)Gag>Aag	p.E22K	LMOD1_uc021phm.1_Missense_Mutation_p.E22K|LMOD1_uc010ppu.2_Missense_Mutation_p.E22K	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	22					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACAGGGTCTCCAGCAGGCTG	0.607000														15			11		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50009539	50009539	+	Silent	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:50009539T>A	uc003cyc.3	+	3	1619	c.1371T>A	c.(1369-1371)ctT>ctA	p.L457L	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_5'UTR|RBM6_uc003cyd.3_5'UTR|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	457	RRM.				RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCAGCAGGCTTATTCGATTAA	0.363000														45			14		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66478837	66478837	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:66478837A>T	uc003juy.2	-	2	1982	c.1834T>A	c.(1834-1836)Tct>Act	p.S612T		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	612	LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CCCCTTAGAGATGGCGGGTTT	0.428000														89			25		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154461772	154461772	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:154461772G>A	uc001ffb.3	-	2	803	c.779C>T	c.(778-780)cCc>cTc	p.P260L	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	260										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTTCACAGGGACTGTCAAG	0.532000														66			16		0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305455	204305456	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:204305455_204305456GG>AA	uc002vad.3	-	13	2682_2683	c.2457_2458CC>TT	c.(2455-2460)ttccct>ttTTct	p.P820S		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	820					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAAGAAGCAGGGAAAGCTGGCT	0.579000														39			14		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040817	107040817	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:107040817C>T	uc010ywi.1	-	19	3663	c.3606G>A	c.(3604-3606)ctG>ctA	p.L1202L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1202					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGAAATCTTTCAGTCCACTCT	0.423000														79			31		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927479	43927479	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:43927479C>T	uc010yny.2	+	7	1465	c.1382C>T	c.(1381-1383)cCa>cTa	p.P461L	PLEKHH2_uc002rte.3_Missense_Mutation_p.P461L|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P460L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	461						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTAAGCCAGCCACAGTTAAGC	0.428000														60			25		0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87541219	87541219	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:87541219C>T	uc003ydv.2	+	3	341	c.179C>T	c.(178-180)tCc>tTc	p.S60F		NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	60	C2 1.				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						CCCCAATTTTCCAAGACATTT	0.368000														40			24		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832540	130832540	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:130832540G>A	uc010fmh.2	-	16	2905	c.2505C>T	c.(2503-2505)gcC>gcT	p.A835A		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	835	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGCCTGGATGGCCACGTACA	0.592000														66			60		0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	46002387	46002387	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:46002387G>A	uc002imk.3	+	4	1612	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	SP2_uc002iml.3_Missense_Mutation_p.G485E	NM_003110	NP_003101	Q02086	SP2_HUMAN	Homo sapiens Sp2 transcription factor (SP2), mRNA.	492					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCCCTGGCCGGAGAGACCCAG	0.602000														54			17		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48143377	48143377	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:48143377C>T	uc003gxz.3	-	14	1621	c.1530G>A	c.(1528-1530)atG>atA	p.M510I		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	510	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G509E(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CATACCTGGCCATTCCAAAAT	0.363000														53			16		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863284	55863284	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:55863284G>A	uc010spn.2	-	0	639	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGTAAGAAAGGATTACTAAAA	0.368000														88			9		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	889761	889761	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:889761G>A	uc003jbq.3	-	4	568	c.401_splice	c.e4-1	p.A134_splice	BRD9_uc003jbl.3_Silent_p.A18A|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Splice_Site_p.P83_splice|BRD9_uc003jbo.3_Silent_p.A18A|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	134							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCTCATTTTCGGCTGACAATT	0.468000														60			11		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:4936029G>A	uc001lzr.1	-	0	865	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000														41			7		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117116893	117116893	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:117116893G>A	uc003pxj.1	-	4	1676	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	GPRC6A_uc003pxk.1_Missense_Mutation_p.H377Y|GPRC6A_uc003pxl.1_Missense_Mutation_p.H481Y	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	552					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTAGTGTAATGATTTTCAGGA	0.363000														52			30		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660549	153660549	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:153660549C>T	uc001fcs.4	+	14	2690	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	NPR1_uc010pdz.2_Missense_Mutation_p.R503W|NPR1_uc010pea.2_Missense_Mutation_p.R235W	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	757	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCGGGTGACTCGGGGTGAGCA	0.662000														60			22		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102667980	102667980	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:102667980G>A	uc003vaq.2	-	4	670	c.243C>T	c.(241-243)atC>atT	p.I81I	FBXL13_uc010liq.1_5'Flank|FBXL13_uc010lir.1_Silent_p.I81I|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.I81I|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	81										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GACAATAGATGATCTGTTGTA	0.299000														18			4		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917366	26917366	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:26917366C>T	uc001wqa.3	-	5	1743	c.957G>A	c.(955-957)ggG>ggA	p.G319G	NOVA1_uc001wpy.3_Silent_p.G441G|NOVA1_uc001wpz.3_Silent_p.G417G	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	444	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTAATGTTTTCCCTCCTTTGC	0.433000														26			8		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983146	57983146	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:57983146G>A	uc010rkc.2	+	0	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATAAGGATATGAAAGGTGCCC	0.423000														104			36		0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118039386	118039386	+	Splice_Site	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:118039386C>T	uc001ehd.1	+	10	2006	c.1285_splice	c.e10-1	p.A429_splice	MAN1A2_uc009whg.1_Splice_Site_p.A219_splice	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	429					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTCCTGTAGGCTATAGAAAAA	0.353000														65			16		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134960073	134960073	+	Silent	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:134960073T>C	uc003eqt.3	+	12	2805	c.2430T>C	c.(2428-2430)taT>taC	p.Y810Y	EPHB1_uc003equ.3_Silent_p.Y371Y	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	810	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTTGGAGCTATGGGATCGTCA	0.522000														258			7		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545246	234545246	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:234545246G>A	uc002vur.3	+	0	124	c.78G>A	c.(76-78)ggG>ggA	p.G26G	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.G26G	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	28					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.G26G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCGAGGCAGGGAAGCTGCTGG	0.587000														84			22		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015497	93015497	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:93015497G>A	uc002brc.1	+	0	591	c.119G>A	c.(118-120)gGa>gAa	p.G40E	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	40										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AGAGGAGAAGGAACGGCTCCC	0.547000														70			15		0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543900	46543900	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:46543900G>A	uc010tfw.1	-	12	2785	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Silent_p.L927L|ZC3H13_uc001vat.1_Silent_p.L927L	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	927							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GAGCTTTCCAGGATTTCTGTC	0.433000														134			19		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924486	150924486	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:150924486G>A	uc003lue.4	-	8	6215	c.6202C>T	c.(6202-6204)Ccc>Tcc	p.P2068S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2068	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAAATTTGGGGGGATTGTCA	0.512000														67			21		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50425041	50425041	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:50425041C>T	uc003daq.3	-	4	506	c.468G>A	c.(466-468)gaG>gaA	p.E156E	CACNA2D2_uc003dap.3_Silent_p.E156E	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	156					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.E156K(2)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CGATGTCTTCCTCCTGGTGAG	0.607000														25			12		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597230	75597231	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:75597230_75597231GG>AA	uc003kei.1	+	11	1994_1995	c.1860_1861GG>AA	c.(1858-1863)tcgggg>tcAAgg	p.G621R		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	621					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGTGCTTTCGGGGATCAGCTG	0.485000														103			27		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27124539	27124540	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:27124539_27124540CC>TT	uc002ylx.4	+	4	697_698	c.547_548CC>TT	c.(547-549)ccc>TTc	p.P183F	GABPA_uc002yly.4_Missense_Mutation_p.P183F	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	183	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CCTTGGGATACCCTATGGTAAT	0.361000														25			7		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218938609	218938609	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:218938609G>A	uc010fvl.2	+	8	1118	c.600_splice	c.e8+1	p.K200_splice	RUFY4_uc002vgw.3_Splice_Site_p.K27_splice	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	200							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAAAGAAGGTGCCTCTGCC	0.552000											OREG0015195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			18		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1101936	1101936	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:1101936G>A	uc001lsx.1	+	44	7715	c.7688G>A	c.(7687-7689)gGg>gAg	p.G2563E		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4929						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTGTTCACGGGAATGCTGAG	0.677000														18			4		0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201958123	201958123	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:201958123C>T	uc001gxd.3	+	1	568	c.539C>T	c.(538-540)cCt>cTt	p.P180L	RNPEP_uc001gxe.3_5'UTR	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	180					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GCCTTCTTCCCTTGCTTCGAC	0.507000														98			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82455909	82455910	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:82455909_82455910CC>TA	uc003uhx.2	-	17	14699_14700	c.14410_14411GG>TA	c.(14410-14412)ggg>TAg	p.G4804*	PCLO_uc003uhv.2_Nonsense_Mutation_p.G4804*|PCLO_uc003uht.1_Nonsense_Mutation_p.G246*|PCLO_uc003uhu.1_Nonsense_Mutation_p.G225*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4666					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G4804W(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTACCTCCCCAAGGAAGTCG	0.381000														59			15		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037036	48037036	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:48037036G>A	uc003gxw.3	+	4	666	c.600G>A	c.(598-600)atG>atA	p.M200I		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	200						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TGCATGAAATGGAAATGAAAT	0.388000														52			11		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488179	108488179	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:108488179C>T	uc010ywk.2	+	19	3801	c.3719C>T	c.(3718-3720)cCt>cTt	p.P1240L	RGPD4_uc002tdu.3_Missense_Mutation_p.P427L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1240					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAACCCAATCCTGAAAACACT	0.423000														163			37		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15733939	15733939	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15733939G>A	uc002nbi.3	+	7	733	c.669G>A	c.(667-669)gcG>gcA	p.A223A	CYP4F8_uc010xoj.2_Silent_p.A36A	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	224					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ATATTACTGCGATCATGGAGC	0.537000														27			6		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20066904	20066904	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:20066904G>A	uc010rdm.2	+	14	4020	c.3659G>A	c.(3658-3660)aGt>aAt	p.S1220N	NAV2_uc001mpp.3_Missense_Mutation_p.S1133N|NAV2_uc001mpr.4_Missense_Mutation_p.S1197N|NAV2_uc021qew.1_Missense_Mutation_p.S1197N|NAV2_uc001mpt.2_Missense_Mutation_p.S283N|NAV2_uc009yhx.3_Missense_Mutation_p.S283N|NAV2_uc009yhy.1_Missense_Mutation_p.S196N	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1220						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCGAGGCCCAGTAAGTCCAAC	0.567000														28			13		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44831599	44831599	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:44831599G>A	uc010xwy.2	-	4	2898	c.2780C>T	c.(2779-2781)tCt>tTt	p.S927F	ZFP112_uc010ejj.3_Missense_Mutation_p.S910F|ZFP112_uc002ozc.4_Missense_Mutation_p.S904F|ZFP112_uc010xwz.2_Missense_Mutation_p.S909F	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						AAACAAAACAGAATCTTCATT	0.323000														20			3		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285052	28285052	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:28285052C>T	uc001bpg.3	+	7	1262	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	SMPDL3B_uc010ofq.2_Silent_p.L151L|SMPDL3B_uc010ofr.2_Silent_p.L309L|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	357					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCTGGGAGCTCGAGTACCAGC	0.637000														58			18		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6959434	6959434	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:6959434C>T	uc002knm.3	-	53	7778	c.7684G>A	c.(7684-7686)Gat>Aat	p.D2562N	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.D15N|LAMA1_uc010wzj.2_Missense_Mutation_p.D2038N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2562	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGTCCCATCCCCAGGATTG	0.522000														56			8		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088580	56088580	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:56088580G>A	uc001shh.3	-	14	2410	c.2190C>T	c.(2188-2190)gtC>gtT	p.V730V	ITGA7_uc001shg.3_Silent_p.V726V|ITGA7_uc010sps.2_Silent_p.V633V|ITGA7_uc009znw.3_Intron|ITGA7_uc009znx.3_Silent_p.V607V	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	770					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAGGGCCCGGACCCCTGAGT	0.642000														58			9		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060381	35060381	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:35060381C>T	uc002xff.3	+	2	696	c.261C>T	c.(259-261)ccC>ccT	p.P87P	DLGAP4_uc010zvp.2_Silent_p.P87P	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	87					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGGAGAGCCCCTTCCCCAGCC	0.622000														66			21		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262552	158262552	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:158262552T>A	uc001fru.3	+	3	1069	c.777T>A	c.(775-777)gaT>gaA	p.D259E	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	259	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CTAATGCTGATGGGACATGGT	0.527000														58			17		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833265	82833265	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:82833265G>A	uc003kii.3	+	7	4799	c.4443G>A	c.(4441-4443)tgG>tgA	p.W1481*	VCAN_uc003kij.3_Nonsense_Mutation_p.W494*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.W145*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1481	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGTTACATGGAAGCCTGAGA	0.413000														54			14		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345308	20345308	+	Silent	SNP	A	C	C	rs150472419		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:20345308A>C	uc001vwh.1	+	0	882	c.882A>C	c.(880-882)gtA>gtC	p.V294V		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V294A(1)		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)		ATCAAGAAGTAAAGATAGCCA	0.353000														49			9		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233410	23233411	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:23233410_23233411CC>TT	uc009vqj.1	+	10	2241_2242	c.2096_2097CC>TT	c.(2095-2097)acc>aTT	p.T699I	EPHB2_uc001bge.3_Missense_Mutation_p.T700I|EPHB2_uc001bgf.3_Missense_Mutation_p.T699I|EPHB2_uc010odu.2_Missense_Mutation_p.T641I	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	699	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATGATCATCACCGAGTTCATGG	0.574000														23			6		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28436193	28436193	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:28436193G>A	uc001zbj.3	-	54	8673	c.8567C>T	c.(8566-8568)tCc>tTc	p.S2856F	HERC2_uc001zbk.1_Missense_Mutation_p.S391F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2856	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTATTCAGGGAATTTCCACC	0.368000														29			5		0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70263215	70263215	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:70263215A>T	uc001opv.4	+	7	760	c.554A>T	c.(553-555)cAc>cTc	p.H185L	CTTN_uc001opu.3_Missense_Mutation_p.H185L|CTTN_uc001opw.4_Missense_Mutation_p.H185L	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	185						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACGGAGAAGCACGAGTCACAG	0.582000														50			22		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39867948	39867948	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:39867948C>T	uc003oow.3	+	22	2914	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S	DAAM2_uc003oox.3_Silent_p.S924S	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	925	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCAGCTTCTCCGAGCTGGAGG	0.572000														11			4		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57871874	57871874	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:57871874C>T	uc003hcl.1	+	8	1249	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	POLR2B_uc011cae.1_Silent_p.F395F|POLR2B_uc011caf.1_Silent_p.F327F	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	402					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGCTTGCATTCTTATTTAGAG	0.403000														44			15		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97087561	97087561	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:97087561G>A	uc021rcc.1	+	11	1679	c.1601G>A	c.(1600-1602)aGa>aAa	p.R534K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	534										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						GACATAACAAGAAATCTAGAA	0.299000														43			9		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260221	65260221	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:65260221C>T	uc001xht.3	-	12	2211	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E	SPTB_uc001xhr.3_Silent_p.E720E|SPTB_uc001xhs.3_Silent_p.E720E|SPTB_uc001xhu.3_Silent_p.E720E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	720					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCCGACACCTCCTTTATGC	0.592000														43			17		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285022	28285022	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:28285022G>A	uc001bpg.3	+	7	1232	c.1041G>A	c.(1039-1041)gcG>gcA	p.A347A	SMPDL3B_uc010ofq.2_Silent_p.A141A|SMPDL3B_uc010ofr.2_Silent_p.A299A|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	347					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGAGCCAGGCGAATGCTCAGG	0.622000														60			18		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65890231	65890231	+	Silent	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:65890231T>C	uc002jgf.3	+	6	2554	c.2493T>C	c.(2491-2493)gtT>gtC	p.V831V	BPTF_uc002jge.3_Silent_p.V957V|BPTF_uc010wqm.1_Silent_p.V894V	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	957					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTGTGCAGTTAAACCAGTTG	0.403000														83			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433788	179433788	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179433788C>T	uc021vsy.1	-	274	69592	c.69367G>A	c.(69367-69369)Gat>Aat	p.D23123N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D16818N|TTN_uc021vta.1_Missense_Mutation_p.D16751N|TTN_uc021vtb.1_Missense_Mutation_p.D16626N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24050	Ig-like 118.						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)			TTAATTGGATCAGCAGTCTGG	0.438000														83			23		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30510808	30510808	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:30510808G>A	uc010gdx.1	+	7	869	c.616G>A	c.(616-618)Gag>Aag	p.E206K	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Missense_Mutation_p.E93K|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	206	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TATTCCCGTGGAGAACTATGT	0.398000														71			18		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600791	29600791	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:29600791C>T	uc001usl.4	+	0	2044	c.1986C>T	c.(1984-1986)ccC>ccT	p.P662P		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	652	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAGGAATCCCCAGGCCCTGG	0.567000														18			4		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325545	150325545	+	Silent	SNP	C	T	T	rs138777121		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:150325545C>T	uc022apv.1	-	2	831	c.351G>A	c.(349-351)ggG>ggA	p.G117G	GIMAP6_uc003whn.3_Silent_p.G47G|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	47							GTP binding	p.G47G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTGTTTTCCCCATGAGAA	0.527000														312			102		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701777	103701777	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:103701777C>T	uc001vpy.4	-	4	1378	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	261					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATCCCCGTTTCAAAAGCAACC	0.423000														32			5		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609913	42609913	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:42609913G>A	uc003bcj.1	-	0	1533	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	TCF20_uc003bck.1_Missense_Mutation_p.P467S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACAGTGTTAGGAAGATTGGCC	0.483000														59			61		0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36278627	36278627	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:36278627C>T	uc003tfa.3	+	2	1552	c.912C>T	c.(910-912)gaC>gaT	p.D304D		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	304					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AACTGCTTGACAGAGAGGCCT	0.393000														42			10		0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289231	46289232	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:46289231_46289232GG>AA	uc002pdj.1	-	2	1568_1569	c.1522_1523CC>TT	c.(1522-1524)ccg>TTg	p.P508L	DMWD_uc021uwc.1_Missense_Mutation_p.R162W|DMWD_uc010eko.1_Missense_Mutation_p.P193L	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	508					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGCCACACCCGGGCCGCCCGCC	0.728000														23			14		0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27285608	27285608	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:27285608C>T	uc003szd.1	+	2	1274	c.788C>T	c.(787-789)gCg>gTg	p.A263V	EVX1_uc011jzn.1_Missense_Mutation_p.A81V|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						ATGAGCCATGCGGCGGCCGCG	0.721000														51			3		0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46198645	46198645	+	Silent	SNP	T	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:46198645T>G	uc002inf.1	+	7	942	c.588T>G	c.(586-588)ccT>ccG	p.P196P	SNX11_uc010wlg.1_Silent_p.P188P|SNX11_uc002ing.1_Silent_p.P196P|SNX11_uc010wlh.1_Silent_p.P188P|SNX11_uc010wli.1_Silent_p.P135P|SNX11_uc010wlj.1_Silent_p.P52P|SNX11_uc002inh.1_Silent_p.P196P	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.	196					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CCTCACCGCCTCCCAGTGAAG	0.507000														94			24		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26694126	26694127	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:26694126_26694127CC>TT	uc001bmg.1	-	2	394_395	c.276_277GG>AA	c.(274-279)ctgggc>ctAAgc	p.G93S	ZNF683_uc001bmh.1_Missense_Mutation_p.G93S|ZNF683_uc009vsj.1_Missense_Mutation_p.G93S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGTCTGTGCCCAGGGGTGCCG	0.693000														21			9		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32760504	32760504	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:32760504C>T	uc001utx.3	+	26	3923	c.3427C>T	c.(3427-3429)Cgt>Tgt	p.R1143C	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.R1143C(4)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTCTGGATCGTTACAGTGA	0.438000														83			15		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97870503	97870503	+	Silent	SNP	G	A	A	rs79739157		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:97870503G>A	uc003upg.3	-	6	916	c.711C>T	c.(709-711)tcC>tcT	p.S237S	TECPR1_uc003uph.1_Silent_p.S167S	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	237						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGTCCAGCAGGGACCAGGAGG	0.637000														58			15		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103984697	103984697	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:103984697C>T	uc001tjw.3	+	1	290	c.104C>T	c.(103-105)tCt>tTt	p.S35F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	35					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATAGGAAGTCTCTTCTTACA	0.433000														63			11		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15365004	15365004	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15365004G>A	uc002nar.3	-	10	2339	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	BRD4_uc002nas.3_Missense_Mutation_p.S706F|BRD4_uc002nat.3_Missense_Mutation_p.S706F	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	706	Poly-Ser.|Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGACTCACTGGAGCTCTCCGA	0.537000			T	C15orf55	lethal midline carcinoma of young people									45			13		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905350	50905350	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:50905350C>T	uc010eny.3	+	3	559	c.558C>T	c.(556-558)gcC>gcT	p.A186A	POLD1_uc002psb.4_Silent_p.A186A|POLD1_uc002psc.4_Silent_p.A186A|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	186					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGGCCGGCCGTGCTGGCTG	0.672000								DNA polymerases (catalytic subunits)						56			8		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97862208	97862208	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:97862208G>A	uc003upg.3	-	11	1954	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	TECPR1_uc003uph.1_Silent_p.F513F	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	583						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAGCTGCTGGAAGATCTGCT	0.632000														30			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057632	9057632	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9057632C>T	uc002mkp.3	-	2	30018	c.29814G>A	c.(29812-29814)gtG>gtA	p.V9938V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9940	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATCACTTCAGTGA	0.448000														198			62		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138942	126138942	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:126138942G>A	uc001uhe.1	+	8	2931	c.2923G>A	c.(2923-2925)Ggc>Agc	p.G975S	TMEM132B_uc001uhf.1_Missense_Mutation_p.G487S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	975						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GATAGACAGGGGCCTGCAGTT	0.483000														20			8		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193049023	193049023	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:193049023C>T	uc011bsq.2	-	11	1350	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	450					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCCTATGGTCAGGGCAGCTG	0.493000														49			12		0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235093	57235093	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:57235093G>A	uc010rjt.2	+	1	43	c.43G>A	c.(43-45)Gcc>Acc	p.A15T		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	15					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCCGCCTCGGCCTGCCTCCT	0.687000														127			40		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47351382	47351382	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:47351382C>T	uc001wwj.4	-	10	2439	c.2281G>A	c.(2281-2283)Ggg>Agg	p.G761R	MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.G463R|MDGA2_uc010ani.3_Missense_Mutation_p.G252R	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	692	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGAATATTCCCATTTATTTTA	0.378000														31			5		0	0	1	0	0
MRPS11	64963	broad.mit.edu	37	15	89021115	89021115	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:89021115G>A	uc002bml.3	+	5	755	c.490G>A	c.(490-492)Gga>Aga	p.G164R	MRPS11_uc002bmm.3_Missense_Mutation_p.G131R|MRPS11_uc002bmn.3_Missense_Mutation_p.G163R|MRPS11_uc010bnj.3_Non-coding_Transcript	NM_022839	NP_073750	P82912	RT11_HUMAN	Homo sapiens mitochondrial ribosomal protein S11 (MRPS11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	164					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TGCCATGCACGGACTGATCAT	0.557000														37			3		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503831	51503831	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51503831T>C	uc002puq.1	-	2	400	c.214A>G	c.(214-216)Agg>Ggg	p.R72G	KLK9_uc002puw.1_Non-coding_Transcript|KLK8_uc002pur.1_Missense_Mutation_p.R27G|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.R27G|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	27	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TCCTGTGCCCTGGAGTGTCCT	0.642000														61			14		0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233092129	233092129	+	Silent	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:233092129T>C	uc001hvj.1	+	2	321	c.234T>C	c.(232-234)gtT>gtC	p.V78V	NTPCR_uc009xft.1_Non-coding_Transcript	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	Homo sapiens nucleoside-triphosphatase, cancer-related (NTPCR), mRNA.	78							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						AATGCCGAGTTGGGCAGTATG	0.438000														29			12		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33005010	33005010	+	Splice_Site	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:33005010A>T	uc001wrq.3	+	3	746	c.576_splice	c.e3+1	p.E192_splice	AKAP6_uc010aml.3_Splice_Site_p.E189_splice	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	192					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGACAAAAGAGGTGAGTGTT	0.443000														67			22		0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491985	30491986	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:30491985_30491986GG>AA	uc003tav.3	-	5	1570_1571	c.1047_1048CC>TT	c.(1045-1050)ctccgg>ctTTgg	p.R350W	NOD1_uc010kvs.2_3'UTR	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	350	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GAGAAGCCCCGGAGAAGCACCT	0.673000														43			14		0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552888	43552888	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:43552888G>A	uc002ija.3	-	3	671	c.501C>T	c.(499-501)ttC>ttT	p.F167F	PLEKHM1_uc010wjm.2_Silent_p.F139F|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Silent_p.F116F|PLEKHM1_uc021tym.1_5'Flank	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	167	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGCCCTGCAGGAAGCTAAGGA	0.607000														56			11		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818288	7818288	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:7818288C>T	uc001mfp.1	-	0	202	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A68S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGAATAGGCCATGTCAGCA	0.438000														63			23		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649316	75649316	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:75649316C>T	uc004ecm.2	+	0	1271	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	331	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGAGCACCTCCGTGCCGCCCA	0.697000														11			15		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167643793	167643793	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:167643793G>A	uc010jjd.3	+	21	4072	c.4072G>A	c.(4072-4074)Ggg>Agg	p.G1358R	ODZ2_uc003lzr.4_Missense_Mutation_p.G1128R|ODZ2_uc003lzt.4_Missense_Mutation_p.G731R|ODZ2_uc010jje.3_Missense_Mutation_p.G622R	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGACAAGAATGGGCTCATGTA	0.532000														43			17		0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44074226	44074226	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:44074226C>T	uc001mxw.1	+	5	843	c.787C>T	c.(787-789)Cct>Tct	p.P263S	ACCSL_uc009ykr.2_Missense_Mutation_p.P82S	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	263							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						CTTCCTGGTCCCTGCTCCCTT	0.542000														274			68		0	0	1	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529405	55529405	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:55529405C>T	uc001xbq.1	+	2	252	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.	30	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						ACCTGGCCAACCTCCTCAAGG	0.527000														26			10		0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148679089	148679089	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:148679089C>T	uc003lqh.3	+	1	165	c.34C>T	c.(34-36)Cca>Tca	p.P12S	AFAP1L1_uc003lqg.4_Missense_Mutation_p.P12S|AFAP1L1_uc010jgy.3_Missense_Mutation_p.P12S	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	12							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTGCTCCCAGAGCTCAC	0.642000														37			11		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215852465	215852465	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:215852465C>A	uc002vew.3	-	26	4102	c.3882G>T	c.(3880-3882)tgG>tgT	p.W1294C	ABCA12_uc002vev.3_Missense_Mutation_p.W976C|ABCA12_uc010zjn.2_Missense_Mutation_p.W221C	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1294					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCGCTCCTTCCAATAGGAAG	0.438000														18			12		0.000151284	0.000152713	1	1	0
PLEC	5339	broad.mit.edu	37	8	144993600	144993600	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:144993600G>A	uc003zaf.1	-	31	10970	c.10800C>T	c.(10798-10800)cgC>cgT	p.R3600R	PLEC_uc003zab.1_Silent_p.R3463R|PLEC_uc003zac.1_Silent_p.R3467R|PLEC_uc003zad.2_Silent_p.R3463R|PLEC_uc003zae.1_Silent_p.R3431R|PLEC_uc003zag.1_Silent_p.R3441R|PLEC_uc003zah.2_Silent_p.R3449R|PLEC_uc003zaj.2_Silent_p.R3490R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3600	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCAGCAGGCGGATGCCGT	0.672000														61			34		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591780	38591780	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:38591780C>T	uc002ohk.3	+	5	2452	c.1943C>T	c.(1942-1944)cCc>cTc	p.P648L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	648	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGGCCGGCCCCGCCTTTGAG	0.607000														15			6		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325191	150325191	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:150325191C>T	uc022apv.1	-	2	1185	c.705G>A	c.(703-705)aaG>aaA	p.K235K	GIMAP6_uc003whn.3_Silent_p.K165K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	165							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGTCTTCCTTCCGGGTGA	0.627000														144			36		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578781	44578781	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:44578781G>A	uc003tlb.3	-	1	1271	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	NPC1L1_uc011kbw.2_Silent_p.F405F|NPC1L1_uc003tlc.3_Silent_p.F405F|NPC1L1_uc003tld.3_Silent_p.F405F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	405					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGTTGGTTCGGAAGAAGGGGC	0.587000														133			38		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503613	47503613	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:47503613C>T	uc010ekv.3	+	5	4168	c.4168C>T	c.(4168-4170)Ctc>Ttc	p.L1390F		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	1390	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAAGGTGAATCTCATGACCAG	0.587000														171			41		0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31811762	31811762	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:31811762G>A	uc002wyr.3	+	1	481	c.273G>A	c.(271-273)gaG>gaA	p.E91E	BPIFA3_uc002wys.3_Silent_p.E91E	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	91						extracellular region	lipid binding										AGCAGCAAGAGAGCAGGTGAG	0.577000														51			19		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434044	69434044	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:69434044C>T	uc021xov.1	-	0	202	c.159G>A	c.(157-159)gtG>gtA	p.V53V		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	53					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCAACACAATCACCTCATGAC	0.403000														66			51		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110714419	110714419	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:110714419C>T	uc003puc.3	-	4	673	c.669G>A	c.(667-669)aaG>aaA	p.K223K	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Silent_p.K164K	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	195					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding	p.K223K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAGGGAAAATCTTTGAGTCTC	0.502000														76			47		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531774	71531774	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:71531774C>T	uc009zrt.1	-	4	565	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TSPAN8_uc001swk.1_Missense_Mutation_p.E135K|TSPAN8_uc001swj.1_Missense_Mutation_p.E135K	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	135					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.E135K(2)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATTGTTTTTCACTTTCCCCT	0.338000														52			20		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51535062	51535062	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:51535062G>A	uc001zyz.4	-	2	299	c.48C>T	c.(46-48)atC>atT	p.I16I	CYP19A1_uc001zza.4_Silent_p.I16I|CYP19A1_uc001zzb.2_Silent_p.I16I|CYP19A1_uc001zzd.3_Silent_p.I16I|CYP19A1_uc010bey.1_Silent_p.I16I|CYP19A1_uc001zze.2_Non-coding_Transcript	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	16					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CTTCAGGCACGATGCTGGTGA	0.488000														119			20		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31789438	31789438	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:31789438G>A	uc021wuu.1	-	4	1575	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	OSBPL10_uc003ceu.1_Nonsense_Mutation_p.Q59*|OSBPL10_uc011axf.2_Nonsense_Mutation_p.Q238*	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	302					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGCCCGCCTGGTGCACACTC	0.612000														105			27		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230683171	230683171	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:230683171A>G	uc002vpx.1	-	8	1617	c.1508T>C	c.(1507-1509)cTt>cCt	p.L503P	TRIP12_uc021vxw.1_Missense_Mutation_p.L461P|TRIP12_uc002vpy.1_Missense_Mutation_p.L158P|TRIP12_uc002vpw.1_Missense_Mutation_p.L455P|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.L461P	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	455					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AACTGCCTGAAGCTGTTGACT	0.398000														106			12		0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1686376	1686376	+	Silent	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:1686376A>G	uc002ftm.4	-	9	2382	c.2214T>C	c.(2212-2214)gtT>gtC	p.V738V	SMYD4_uc002ftn.1_Silent_p.V593V	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	738							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGCCCATTTCAACACTGGACG	0.512000														52			10		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19317917	19317917	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:19317917C>T	uc010vyw.2	+	8	1183	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.R201C	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	318							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTCTTAGTTCGTGACTCATC	0.597000														29			9		0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63855103	63855104	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:63855103_63855104AG>GA	uc002amf.3	+	7	786_787	c.657_658AG>GA	c.(655-660)gtagaa>gtGAaa	p.E220K	USP3_uc010uii.1_Non-coding_Transcript|USP3_uc002amg.3_Missense_Mutation_p.E135K|USP3_uc002amh.3_Missense_Mutation_p.E198K|USP3_uc010uij.2_Missense_Mutation_p.E176K|USP3_uc010uik.2_5'UTR|USP3_uc010bgs.3_Missense_Mutation_p.E203K|USP3_uc002ami.3_Missense_Mutation_p.E51K	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	Homo sapiens ubiquitin specific peptidase 3 (USP3), mRNA.	220					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		GGTCTTTGGTAGAAGAGTTTAG	0.421000														100			24		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116406784	116406784	+	Silent	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:116406784A>C	uc001tvw.3	-	27	6241	c.6186T>G	c.(6184-6186)ccT>ccG	p.P2062P		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	2062					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAATTCCAGAAGGAGAGCCTG	0.463000														45			6		0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74281004	74281004	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:74281004G>A	uc002awe.3	-	3	601	c.530C>T	c.(529-531)gCc>gTc	p.A177V	STOML1_uc002awf.3_Missense_Mutation_p.A177V|STOML1_uc010bje.3_Missense_Mutation_p.A177V|STOML1_uc010uld.2_Missense_Mutation_p.A135V|STOML1_uc002awh.3_Missense_Mutation_p.A127V|STOML1_uc002awg.3_Missense_Mutation_p.A127V	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	177						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTTGAGCAGGGCCTTGGTCAT	0.592000														68			12		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8228877	8228877	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:8228877T>G	uc003gkv.4	+	11	1557	c.1456T>G	c.(1456-1458)Tgc>Ggc	p.C486G	SH3TC1_uc003gkw.4_Missense_Mutation_p.C410G|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	486							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCCTCCTTCTGCTTGGAAGC	0.652000														28			5		0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531868	75531868	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:75531868G>A	uc004ajd.3	-	8	1320	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	ALDH1A1_uc011lsh.2_Missense_Mutation_p.P256S|ALDH1A1_uc011lsg.2_Missense_Mutation_p.P161S	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	335					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGGGTCAGAGGATTTCCAAGG	0.418000														68			22		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139189295	139189295	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:139189295G>A	uc003leu.1	+	1	475	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	90					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACATTCTGGAAGATTCAG	0.617000														90			33		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58724359	58724359	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:58724359C>T	uc002qrq.1	+	8	2268	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	ZNF274_uc002qrr.1_Silent_p.S571S|ZNF274_uc002qrs.1_Silent_p.S498S|ZNF274_uc010eum.1_Silent_p.S363S	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	604					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GCCAGAGCTCCCACCTCATCA	0.562000														65			20		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191145	66191145	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:66191145G>A	uc001ohx.1	+	5	1081	c.905G>A	c.(904-906)gGt>gAt	p.G302D	NPAS4_uc010rpc.1_Missense_Mutation_p.G92D	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	302	PAC.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TACTCAGAAGGTCCAGAGGGA	0.537000														61			26		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337534	16337534	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:16337534A>C	uc021whl.1	-	0	2980	c.2980T>G	c.(2980-2982)Tgc>Ggc	p.C994G	NRIP1_uc002yjx.2_Missense_Mutation_p.C994G	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	994					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTATCCATGCAACTGCTGGGC	0.423000														29			6		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173883428	173883428	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:173883428C>T	uc002uhv.4	+	21	2240	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	RAPGEF4_uc002uhw.4_Missense_Mutation_p.R541W	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	685					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CACAACCATTCGGGTGCCAGT	0.483000														74			14		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155003670	155003670	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:155003670G>A	uc001fgm.3	-	4	860	c.780C>T	c.(778-780)ccC>ccT	p.P260P	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	260						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCGCAAGAAGGGTTGAATGT	0.642000														35			7		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:51382068G>A	uc001wyu.3	-	10	1516	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_uc010tqq.2_Silent_p.I429I	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	463					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.I463I(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGTCTTCACGATGTCTGAGT	0.473000														111			40		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	436390	436390	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:436390G>A	uc002loq.4	-	5	816	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	272	PID.			I -> E (in Ref. 3).	Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTGGTTGATGGGGTCCT	0.721000														48			15		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135376073	135376074	+	Splice_Site	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:135376073_135376074CC>TT	uc003vtb.3	-	13	2011	c.1322_splice	c.e13-1	p.G441_splice	SLC13A4_uc003vta.3_Splice_Site_p.G440_splice|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	440						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CTGGTTCTCTCCTGGATTAGAG	0.510000														44			13		0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231349659	231349659	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:231349659C>T	uc009xfn.1	+	8	2264	c.2222C>T	c.(2221-2223)cCc>cTc	p.P741L		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	741	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAGCAGGGCCCCACAGCCTTC	0.647000														50			12		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64972386	64972386	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:64972386T>G	uc002ann.3	+	5	3772	c.3772T>G	c.(3772-3774)Tcc>Gcc	p.S1258A		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1258						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCACAGGTTCCTACCTGCC	0.507000														66			17		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926750	22926750	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:22926750G>A	uc002dli.3	+	1	1043	c.971G>A	c.(970-972)cGa>cAa	p.R324Q		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	324						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CTCCTGCCTCGATGCTTGGGC	0.403000														137			41		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206243202	206243202	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:206243202G>A	uc001hdt.1	-	2	699	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	20						integral to membrane		p.L19V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGGCCTGCAGGAAGAGGGACA	0.532000														49			14		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109704684	109704684	+	Missense_Mutation	SNP	C	T	T	rs45520342		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:109704684C>T	uc010agk.2	+	24	3531	c.2909C>T	c.(2908-2910)tCg>tTg	p.S970L	MYO16_uc001vqt.1_Missense_Mutation_p.S948L|MYO16_uc001vqu.1_Missense_Mutation_p.S748L|MYO16_uc010tjh.1_Missense_Mutation_p.S460L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	948	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.S948*(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTGTTCCAGTCGAAATTGTCA	0.363000														57			11		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88123561	88123561	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:88123561C>T	uc003plv.3	+	3	349	c.226C>T	c.(226-228)Cca>Tca	p.P76S	C6orf165_uc003plu.2_Missense_Mutation_p.P76S|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	76										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TACTAAAAATCCATCCCTGGA	0.313000														27			11		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14042043	14042043	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:14042043C>A	uc002dce.2	+	10	2599	c.2590C>A	c.(2590-2592)Cgc>Agc	p.R864S	ERCC4_uc010uyz.1_Missense_Mutation_p.R414S	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	864	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CAAAAACTGCCGCTCCTTGAT	0.478000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					33			14		1.3612e-06	1.3832e-06	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48284285	48284285	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:48284285T>A	uc003toq.2	+	10	1399	c.1375T>A	c.(1375-1377)Tta>Ata	p.L459I	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	459					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCTCAGAATTTACATTTTGT	0.428000														59			22		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964692	94964692	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:94964692G>A	uc001ydj.3	-	2	839	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	15					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTCACCGTGAGGAGAACAGCC	0.468000														64			23		0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47774721	47774722	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:47774721_47774722CC>TT	uc010xym.2	+	11	1589_1590	c.1382_1383CC>TT	c.(1381-1383)ccc>cTT	p.P461L	PRR24_uc021uwm.1_5'Flank	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	461										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		ACCGGGATCCCCTGCAGTGAGC	0.658000														47			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281867	152281867	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:152281867G>A	uc001ezu.1	-	2	5531	c.5495C>T	c.(5494-5496)tCg>tTg	p.S1832L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1832	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S1832S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTATCTACCGATTGCTCATA	0.577000									Ichthyosis					397			128		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204725	43204725	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:43204725G>A	uc002lbe.3	+	1	912	c.96G>A	c.(94-96)tcG>tcA	p.S32S	SLC14A2_uc002lbb.3_Silent_p.S32S|SLC14A2_uc010dnj.3_Silent_p.S32S	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	32						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.S32*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGGCCCTCGACATCCCCGG	0.572000														79			23		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868179	189868179	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:189868179C>T	uc002uqj.1	+	36	2713	c.2596C>T	c.(2596-2598)Cct>Tct	p.P866S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	866	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGTGGCAGTCCTGGTGGACC	0.373000														20			9		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67759456	67759456	+	Splice_Site	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:67759456C>T	uc002lkp.2	-	30	4101	c.4033_splice	c.e30-1	p.E1345_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.E433_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1345							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GACATCCACTCCTAGAGGGAA	0.353000														36			10		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401811	89401811	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:89401811C>T	uc010upo.1	+	11	6369	c.5995C>T	c.(5995-5997)Cca>Tca	p.P1999S	ACAN_uc010upp.1_Missense_Mutation_p.P1999S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1999					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGGAGAGCCACCAGGTACTCC	0.552000														50			15		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25669513	25669513	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:25669513C>T	uc003grr.3	+	5	616	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	SLC34A2_uc003grs.3_Missense_Mutation_p.R178W|SLC34A2_uc010iev.3_Missense_Mutation_p.R178W	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	179					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTCACTGTTCGGGCTGCCAT	0.493000			T	ROS1	NSCLC									33			7		0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92161850	92161850	+	Silent	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:92161850T>C	uc003uma.3	+	2	476	c.435T>C	c.(433-435)acT>acC	p.T145T	RBM48_uc011khu.1_Silent_p.T145T|RBM48_uc003ulz.3_Silent_p.T145T			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	145							nucleotide binding										TAGTAAAAACTACTGAAAATA	0.408000														30			7		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15572085	15572085	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15572085C>T	uc002nbe.2	-	3	574	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	163					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GCTAGCACTTCCCACCCGGGG	0.647000														31			7		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136595217	136595217	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:136595217G>A	uc004cep.4	-	4	917	c.783C>T	c.(781-783)tcC>tcT	p.S261S	SARDH_uc004ceo.3_Silent_p.S261S|SARDH_uc011mdo.2_Silent_p.S93S|SARDH_uc011mdn.2_Silent_p.S261S	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	261					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTGTCTGGATGGAACCATGCT	0.587000														52			6		0	0	1	0	0
POLR3GL	84265	broad.mit.edu	37	1	145457937	145457937	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:145457937G>A	uc001enp.1	-	3	430	c.323C>T	c.(322-324)cCt>cTt	p.P108L		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	108										endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCACCTACCAGGGTTCCAATC	0.502000														45			12		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20027423	20027423	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:20027423C>T	uc002non.3	+	2	361	c.185C>T	c.(184-186)cCt>cTt	p.P62L	ZNF93_uc002nom.3_Missense_Mutation_p.P62L	NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	62	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GGAAAAAAACCTTTGACTATG	0.418000														68			18		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29909286	29909286	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:29909286C>T	uc010vec.2	-	1	344	c.99G>A	c.(97-99)gaG>gaA	p.E33E	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.E33E|SEZ6L2_uc002dur.4_Silent_p.E33E|SEZ6L2_uc002duq.4_Silent_p.E33E|SEZ6L2_uc010ved.2_Intron|SEZ6L2_uc002dus.4_Silent_p.E33E|ASPHD1_uc002dut.3_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	33						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAATATCTCCTCCTCCTTCA	0.577000														42			10		0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15627591	15627591	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:15627591G>A	uc003nbm.3	-	4	527	c.338C>T	c.(337-339)tCc>tTc	p.S113F	DTNBP1_uc003nbl.3_Missense_Mutation_p.S32F|DTNBP1_uc010jph.3_Missense_Mutation_p.S100F|DTNBP1_uc003nbp.3_Missense_Mutation_p.S113F	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	113					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TGCTGTCATGGATTCTAAGTC	0.443000									Hermansky-Pudlak syndrome					39			14		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92498153	92498153	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:92498153C>T	uc001pdj.4	+	4	4110	c.4093C>T	c.(4093-4095)Ccg>Tcg	p.P1365S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1365	Cadherin 13.				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)				CTTCGATGAGCCGTTTTATAA	0.493000										TCGA Ovarian(4;0.039)				43			12		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455305	70455305	+	Nonsense_Mutation	SNP	G	A	A	rs139303872	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:70455305G>A	uc011caq.2	-	6	1983	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*	UGT2A1_uc010ihu.3_Nonsense_Mutation_p.R457*|UGT2A1_uc003hem.4_Nonsense_Mutation_p.R457*|UGT2A1_uc010ihs.3_Nonsense_Mutation_p.R466*|UGT2A1_uc021xox.1_Nonsense_Mutation_p.R422*|UGT2A1_uc010iht.3_Nonsense_Mutation_p.R413*	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.R457*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGACTGCTCGATCCAGGGGC	0.448000														101			26		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091529	74091529	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:74091529G>A	uc021ulp.1	-	3	2859	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGCCACTTTTGGACCCCGGCA	0.647000														105			26		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14574503	14574503	+	Nonsense_Mutation	SNP	G	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:14574503G>T	uc002myp.3	+	9	1612	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	PKN1_uc002myq.3_Nonsense_Mutation_p.E488*	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	482					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCCTGTCATTGAGAGGATTCC	0.602000														66			22		6.32553e-13	6.45228e-13	1	1	0
CDYL2	124359	broad.mit.edu	37	16	80718765	80718765	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:80718765G>A	uc002ffs.3	-	1	391	c.286C>T	c.(286-288)Cct>Tct	p.P96S		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	96						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTCTTTCCAGGATCTGAAGGT	0.547000														25			19		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199302	86199302	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:86199302C>T	uc001taf.1	-	1	825	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	162					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAAGTTTTCCTGACTATTC	0.388000														80			28		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34161572	34161572	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:34161572C>T	uc002hkd.3	+	8	729	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.H212Y	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	215					positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCCCTTAGGTCACAGGGATTA	0.313000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									36			12		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43767830	43767830	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:43767830G>A	uc001zrs.3	-	8	1151	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	TP53BP1_uc010udp.2_Missense_Mutation_p.P335S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P340S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P340S|TP53BP1_uc010udq.1_Missense_Mutation_p.P340S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	335					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		GTGGTGGCAGGAGTGGAAGCC	0.473000								Other conserved DNA damage response genes						55			19		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485177	31485177	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:31485177C>T	uc002ecd.2	+	3	238	c.204C>T	c.(202-204)tcC>tcT	p.S68S	TGFB1I1_uc021tgx.1_Silent_p.S51S|TGFB1I1_uc002ece.2_Silent_p.S51S	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	68	Interaction with PTK2B.|Transcription activation (By similarity).				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						AGCCTCGGTCCCCAAAGCCTG	0.617000														94			26		0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197593054	197593054	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:197593054C>T	uc011bul.1	+	16	1842	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	LRCH3_uc003fyj.1_Missense_Mutation_p.L613F|LRCH3_uc011bum.1_Missense_Mutation_p.L561F|LRCH3_uc011bun.1_Missense_Mutation_p.L459F|LRCH3_uc003fyk.2_Missense_Mutation_p.L208F	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	613						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TGAAAGCTTCCTTTTCCGAGC	0.453000														45			14		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5810031	5810031	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:5810031G>A	uc003gil.1	+	17	2849	c.2665G>A	c.(2665-2667)Gcc>Acc	p.A889T	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	889					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCTTCTGGAAGCCCAGCTGGA	0.567000														41			6		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149584095	149584095	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:149584095G>A	uc003lrr.3	+	11	1704	c.1333_splice	c.e11-1	p.G445_splice		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	445						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGTGTTTTAGGGGGGCATGTA	0.582000														72			15		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149153029	149153029	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:149153029G>A	uc003wfv.3	-	1	248	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P28P(2)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGAGTTTCTCGGGGGAGTCCA	0.552000														43			13		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947498	40947499	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:40947498_40947499GG>AA	uc002ibj.3	+	14	3049_3050	c.2981_2982GG>AA	c.(2980-2982)cgg>cAA	p.R994Q	WNK4_uc010wgx.2_Missense_Mutation_p.R658Q|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	994					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCTCCTGCTCGGCCCCTCCCAG	0.584000														111			35		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503820	51503820	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51503820C>T	uc002puq.1	-	2	411	c.225G>A	c.(223-225)gaG>gaA	p.E75E	KLK9_uc002puw.1_Non-coding_Transcript|KLK8_uc002pur.1_Silent_p.E30E|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.E30E|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	30	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GCACCTTGTCCTCCTGTGCCC	0.632000														59			16		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526129	176526129	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:176526129A>C	uc001gkz.3	+	1	1835	c.671A>C	c.(670-672)aAg>aCg	p.K224T	PAPPA2_uc001gky.1_Missense_Mutation_p.K224T|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	224					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTTGGCCCAAGCATTCCCTT	0.557000														84			29		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117840333	117840333	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:117840333C>T	uc004bjj.4	-	6	2975	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K	TNC_uc010mvf.3_Missense_Mutation_p.E855K|TNC_uc022bmj.1_Missense_Mutation_p.E855K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	855	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TACTGGTTCTCGTCCTCTGTG	0.562000														29			19		0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92151512	92151512	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:92151512G>A	uc003uly.3	-	1	273	c.177C>T	c.(175-177)agC>agT	p.S59S	PEX1_uc011khr.2_5'UTR|PEX1_uc010ley.3_Silent_p.S59S|PEX1_uc011khs.2_Silent_p.S59S	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	59					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTCCACCCAGCTCAAGAATG	0.403000														63			27		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941994	120941994	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:120941994C>T	uc003eec.4	+	10	1241	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	STXBP5L_uc011bji.2_Silent_p.P367P	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	367					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)		GTGAAACGCCCTATCCAAATG	0.294000														25			5		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857670	9857670	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:9857670T>C	uc010uym.2	-	13	4041	c.3731A>G	c.(3730-3732)aAc>aGc	p.N1244S	GRIN2A_uc002czo.4_Missense_Mutation_p.N1244S|GRIN2A_uc010uyn.2_Missense_Mutation_p.N1087S|GRIN2A_uc002czr.4_Missense_Mutation_p.N1244S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1244					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCATAGAGGTTCCCCATCCG	0.572000														70			18		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948504	119948504	+	Missense_Mutation	SNP	C	T	T	rs141002177	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:119948504C>T	uc010inb.3	+	2	1176	c.980C>T	c.(979-981)gCc>gTc	p.A327V	SYNPO2_uc010ina.3_Missense_Mutation_p.A327V|SYNPO2_uc003icm.4_Missense_Mutation_p.A327V|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.A255V	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	327						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTATCCTTTGCCGTCTCATCA	0.552000														39			3		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57552264	57552264	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:57552264C>T	uc001snd.3	+	10	2107	c.1641C>T	c.(1639-1641)gtC>gtT	p.V547V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	547					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCCAAGGTCCCGGATGAGC	0.602000														23			13		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62299433	62299433	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:62299433G>A	uc001dab.3	+	16	2202	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	INADL_uc009waf.1_Silent_p.L696L|INADL_uc001daa.2_Silent_p.L696L|INADL_uc001dad.3_Silent_p.L393L|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	696	PDZ 5.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.G695S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTAAAGGTTTGGGATTCAGCA	0.368000														50			18		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677379	3677379	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:3677379G>A	uc002wja.3	-	9	2537	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	SIGLEC1_uc002wiz.4_Missense_Mutation_p.S846F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	846	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.S846S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCGACCATGGGATGGGACCTG	0.632000														74			16		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625402	141625402	+	Splice_Site	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:141625402A>C	uc002tvj.1	-	27	5307	c.4335_splice	c.e27-1	p.R1445_splice	LRP1B_uc010fnl.1_Splice_Site_p.R627_splice	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1445					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGCATCTGACCTACAGAAA	0.358000										TSP Lung(27;0.18)				28			8		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898119	12898119	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:12898119G>A	uc002gnz.4	-	20	2108	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	ELAC2_uc002gnu.4_Missense_Mutation_p.S61F|ELAC2_uc002gnv.4_Missense_Mutation_p.S292F|ELAC2_uc002gnx.4_Missense_Mutation_p.S424F|ELAC2_uc010vvo.2_Missense_Mutation_p.S462F|ELAC2_uc010vvp.2_Missense_Mutation_p.S645F|ELAC2_uc010vvq.2_Missense_Mutation_p.S663F|ELAC2_uc010vvr.2_Missense_Mutation_p.S624F	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	664					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGTGTCCCCGGAATAGACCAC	0.597000														44			13		0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75185909	75185909	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:75185909G>A	uc009xrh.3	-	5	871	c.798C>T	c.(796-798)ccC>ccT	p.P266P	MSS51_uc001juc.3_Silent_p.P243P|MSS51_uc001jud.3_Silent_p.P243P|MSS51_uc009xrg.3_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	243							zinc ion binding										CTAGAGTCAAGGGCCGTGACA	0.572000														31			25		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27927145	27927145	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:27927145C>T	uc003xgm.4	-	3	316	c.173G>A	c.(172-174)aGa>aAa	p.R58K		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	58						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CAAAACCCTTCTGGTCCGTGA	0.438000														84			15		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968876	87968876	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:87968876C>T	uc003plm.4	+	7	5570	c.5529C>T	c.(5527-5529)ggC>ggT	p.G1843G		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTTAGAAGGCTTACAGAAAT	0.373000														25			8		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807144	233807144	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:233807144C>T	uc010pxo.1	+	2	1047	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	293						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	AGGTGCACATCATAGAGCATG	0.463000														31			10		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65847587	65847587	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:65847587G>A	uc001ssn.3	+	4	519	c.393G>A	c.(391-393)gtG>gtA	p.V131V	MSRB3_uc009zqp.3_Silent_p.V124V|MSRB3_uc001ssm.3_Silent_p.V124V|MSRB3_uc021qzy.1_Silent_p.V124V	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	131					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCACAGGGTGGAAACAAGCT	0.468000														49			3		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373563	62373563	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:62373563G>A	uc010rly.1	-	12	1936	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L	EML3_uc001ntr.1_Missense_Mutation_p.P515L|EML3_uc001nts.1_Missense_Mutation_p.P515L|EML3_uc001ntt.1_Missense_Mutation_p.P427L|EML3_uc001ntu.1_Missense_Mutation_p.P543L|EML3_uc009yny.1_Missense_Mutation_p.P326L			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	543						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACCAACCCGGGCCCCCACTG	0.637000														164			42		0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16472743	16472743	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:16472743G>A	uc002ndx.3	-	22	2439	c.2433C>T	c.(2431-2433)ccC>ccT	p.P811P	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_3'UTR|EPS15L1_uc002ndz.1_Silent_p.P811P|EPS15L1_uc010xpf.1_Silent_p.P714P|EPS15L1_uc002nea.1_3'UTR|EPS15L1_uc010eah.1_3'UTR	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	811	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGAATGGATCGGGGGCCTCGG	0.498000														25			7		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594187	136594188	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:136594187_136594188GG>AA	uc002tuu.1	-	0	563_564	c.552_553CC>TT	c.(550-555)caccag>caTTag	p.Q185*		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	185	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTTGATTCCTGGTGGGGAAGCT	0.510000														52			18		0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14902032	14902032	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:14902032T>A	uc001mlr.3	-	2	650	c.650A>T	c.(649-651)aAt>aTt	p.N217I	CYP2R1_uc001mlp.3_Missense_Mutation_p.N100I|CYP2R1_uc001mlq.3_Non-coding_Transcript|CYP2R1_uc001mls.1_Missense_Mutation_p.N162I	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily R, polypeptide 1 (CYP2R1), mRNA.	217					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TAGTTCCACATTTTCACTAAA	0.388000														41			15		0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14877186	14877186	+	Silent	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:14877186A>G	uc002mzp.1	-	6	951	c.495T>C	c.(493-495)aaT>aaC	p.N165N	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Silent_p.N165N|EMR2_uc002mzo.1_Silent_p.N165N|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	165	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGGTGCATTCATTCACATCTG	0.597000														69			26		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8122513	8122513	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:8122513G>A	uc001mga.3	+	10	1505	c.1356G>A	c.(1354-1356)gtG>gtA	p.V452V	TUB_uc010rbk.2_Silent_p.V458V|TUB_uc001mfy.3_Silent_p.V507V	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	452					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGGCCTCCGTGAAGAACTTCC	0.517000														52			18		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725701	87725701	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:87725701G>A	uc003pli.3	+	1	1352	c.649G>A	c.(649-651)Gga>Aga	p.G217R	HTR1E_uc021zcg.1_Missense_Mutation_p.G217R	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	217					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCAGAAAAGGGGATCAAGTCG	0.448000														65			25		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42784515	42784515	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:42784515C>T	uc003cly.4	-	7	944	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	287										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGACTGGCTCCGGGCCTGGCC	0.547000														136			38		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565086	58565086	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:58565086G>A	uc002qrc.1	+	5	1141	c.894G>A	c.(892-894)ggG>ggA	p.G298G		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGACTGTGGGATGGTCTTCA	0.627000														65			29		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35331759	35331759	+	Silent	SNP	G	A	A	rs139407093		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:35331759G>A	uc001byc.3	-	9	2865	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	955					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGTGGCGGAAGGAAGCGGCGC	0.746000														15			9		0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892590	892591	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:892590_892591GG>AA	uc009vjq.3	-	2	301_302	c.242_243CC>TT	c.(241-243)ccc>cTT	p.P81L	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Missense_Mutation_p.P81L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	81						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGTAGAACTCGGGGTCTCTGTC	0.599000														82			18		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918898	144918898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:144918898G>A	uc021ouh.1	-	9	1590	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.R430*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.R496*|PDE4DIP_uc001emd.2_Nonsense_Mutation_p.R430*|PDE4DIP_uc001emc.2_Nonsense_Mutation_p.R430*|PDE4DIP_uc001emb.1_Nonsense_Mutation_p.R593*|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	430					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGGTTCGAATCTCATTG	0.438000			T	PDGFRB	MPD									470			51		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96386562	96386562	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:96386562G>A	uc001tem.1	-	8	908	c.611C>T	c.(610-612)cCt>cTt	p.P204L	HAL_uc010sux.1_Missense_Mutation_p.P204L|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	204					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.P204P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACACCTCTCAGGACTTAGTGG	0.443000														141			52		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703794	60703794	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:60703794G>A	uc001nqi.3	+	10	2683	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E	TMEM132A_uc001nqj.3_Silent_p.E829E	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	829	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						Gggaggaggaggaggaagagg	0.627000														84			29		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125279	104125279	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:104125279C>T	uc010mtd.3	-	3	797	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	BAAT_uc004bbd.4_Missense_Mutation_p.G230R	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	230					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAGACTACCCCAACGCCTGAG	0.388000														41			11		0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253548	55253548	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:55253548A>T	uc002rye.3	-	2	1985	c.1687T>A	c.(1687-1689)Ttg>Atg	p.L563M	RTN4_uc002ryd.3_Missense_Mutation_p.L357M|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	563					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ACTTCATTCAATTCACTTTCA	0.403000														51			19		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41845064	41845064	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:41845064G>A	uc010lxb.3	-	3	1162	c.618C>T	c.(616-618)atC>atT	p.I206I	KAT6A_uc010lxc.3_Silent_p.I206I|KAT6A_uc003xon.4_Silent_p.I206I|KAT6A_uc010lxd.3_Silent_p.I206I	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	206					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TACAGATGGGGATTGGTTCAG	0.373000														186			110		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185694280	185694280	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:185694280G>A	uc003iww.2	-	9	1164	c.870C>T	c.(868-870)caC>caT	p.H290H	ACSL1_uc011ckm.1_Silent_p.H119H|ACSL1_uc003iwt.1_Silent_p.H290H|ACSL1_uc003iwu.1_Silent_p.H290H|ACSL1_uc011ckn.1_Silent_p.H256H|ACSL1_uc010ise.1_Non-coding_Transcript	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	290					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTATGTTTCGGTGAGTGACCA	0.428000														31			10		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200948779	200948779	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:200948779G>A	uc001gvs.2	-	29	4361	c.4044C>T	c.(4042-4044)ccC>ccT	p.P1348P	KIF21B_uc009wzl.2_Silent_p.P1348P|KIF21B_uc001gvr.2_Silent_p.P1335P|KIF21B_uc010ppn.2_Silent_p.P1335P	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1348					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACGTTGTTGGGGTGGCCCT	0.577000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		253			58		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80633149	80633149	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:80633149C>T	uc001szd.3	+	9	961	c.955C>T	c.(955-957)Cct>Tct	p.P319S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGCAGTTTCCTTTTCTGAG	0.353000														45			19		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3680978	3680978	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:3680978G>A	uc001lye.1	+	2	330	c.229G>A	c.(229-231)Gac>Aac	p.D77N	ART1_uc009yeb.1_Missense_Mutation_p.D77N	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	77					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGTGTATGCAGACAGCTGGAC	0.632000														34			5		0	0	1	0	0
FAM132A	388581	broad.mit.edu	37	1	1179872	1179872	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:1179872G>A	uc001adl.2	-	1	215	c.183C>T	c.(181-183)tcC>tcT	p.S61S		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	Homo sapiens family with sequence similarity 132, member A (FAM132A), mRNA.	61						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGAGGCCTGGGATGGCTGAA	0.672000														49			14		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70357624	70357624	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:70357624C>T	uc004dyy.3	+	40	6074	c.5875C>T	c.(5875-5877)Cct>Tct	p.P1959S	MED12_uc011mpq.1_Missense_Mutation_p.P1959S|MED12_uc004dyz.3_Missense_Mutation_p.P1958S|MED12_uc004dza.3_Missense_Mutation_p.P1809S|MED12_uc010nla.3_Missense_Mutation_p.P588S	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1959	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACACACAGGCCCTGCAGGTAC	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							24			14		0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137717732	137717732	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:137717732G>A	uc003ero.1	+	0	75	c.22G>A	c.(22-24)Ggc>Agc	p.G8S		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	8					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TGCCTGTCAGGGCTTGGGGTT	0.567000														66			18		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919329	54919329	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:54919329C>T	uc003dhf.3	+	21	1982	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.P551L|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.P379L|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	645						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTAGAACATCCCGATGTGTCC	0.483000														82			24		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116276919	116276919	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:116276919C>T	uc004bhq.3	+	15	1868	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	RGS3_uc004bhr.3_Silent_p.F441F|RGS3_uc004bhs.3_Silent_p.F443F|RGS3_uc004bht.3_Silent_p.F272F|RGS3_uc010muy.3_Silent_p.F272F|RGS3_uc004bhu.3_Silent_p.F179F	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	553					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTGGTGTTCCCTGTCTTTG	0.597000														31			8		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7670097	7670097	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:7670097A>G	uc001mfj.4	+	18	2252	c.1864A>G	c.(1864-1866)Aaa>Gaa	p.K622E	PPFIBP2_uc010rbb.1_Missense_Mutation_p.K545E|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.K556E|PPFIBP2_uc010rbe.2_Missense_Mutation_p.K510E|PPFIBP2_uc001mfl.4_Missense_Mutation_p.K479E|PPFIBP2_uc009yfj.1_Missense_Mutation_p.K266E	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	622	SAM 1.				DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CATCAACACCAAACAGGAGGA	0.413000														123			44		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633997	70633997	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:70633997G>A	uc001xly.3	-	1	1897	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	SLC8A3_uc001xlw.3_Silent_p.S381S|SLC8A3_uc001xlx.3_Silent_p.S381S|SLC8A3_uc001xlz.3_Silent_p.S381S|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	381					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.A380T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CGCTCATGCTGGAGGCCTTCT	0.517000														103			33		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558774	140558774	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140558774C>T	uc011dai.2	+	0	1404	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCCATTCAGGAGGATCT	0.458000														63			18		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480641	57480641	+	Silent	SNP	T	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:57480641T>G	uc009vzx.1	-	11	1679	c.1359A>C	c.(1357-1359)gcA>gcC	p.A453A	DAB1_uc001cyt.1_Silent_p.A451A|DAB1_uc001cyq.1_Silent_p.A451A|DAB1_uc001cyr.1_Silent_p.A367A|DAB1_uc009vzw.1_Silent_p.A435A|DAB1_uc001cys.1_Silent_p.A453A	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	486					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGTATCCTGTGCCACCCCGA	0.577000														56			26		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872095	108872095	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:108872095C>T	uc010ywo.2	+	3	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	156						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AGGATGGCTTCCTTTATGCCT	0.443000														56			27		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908697	103908697	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:103908697G>A	uc001phr.2	+	0	1390	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	383					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTCGGACAAGGAAATTACACA	0.468000														29			12		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518329	41518329	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:41518329C>T	uc002opr.1	+	6	1098	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.P164L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	364					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GACCTTCTCCCCATGGGTGTG	0.552000														47			17		0	0	1	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618588	89618588	+	Silent	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:89618588T>C	uc003hrx.3	-	0	436	c.318A>G	c.(316-318)gaA>gaG	p.E106E	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	106					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TATACTTTTTTTCCAGAGCCT	0.498000														47			17		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16326976	16326976	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:16326976G>A	uc003nbt.3	-	7	2537	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	ATXN1_uc010jpi.3_Silent_p.F522F|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	522	Self-association.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein 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)				CGGTGGTGACGAACGTGTGAG	0.657000														159			41		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10036179	10036179	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:10036179G>A	uc002wno.3	+	10	2595	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.E734E|ANKRD5_uc010gbz.3_Silent_p.E545E	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	734							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CAACAGCAGAGCTGATCAGGA	0.438000														34			11		0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263404	263404	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:263404C>T	uc021tna.1	+	1	786	c.770C>T	c.(769-771)cCc>cTc	p.P257L	C17orf97_uc010vpz.1_Non-coding_Transcript	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	287	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGCTTCCACCCCGACCCCGAG	0.692000														4			3		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160692157	160692157	+	Splice_Site	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:160692157C>T	uc002ubb.4	-	26	3582	c.3508_splice	c.e26-1	p.D1170_splice	LY75-CD302_uc010fos.3_Splice_Site_p.D1170_splice|LY75-CD302_uc002ubc.4_Splice_Site_p.D1170_splice	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1170	C-type lectin 7.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TGAGTTCATCCTGTAAGGAGC	0.373000														54			13		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114156562	114156562	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:114156562G>A	uc004bfe.1	-	26	3334	c.3334C>T	c.(3334-3336)Cca>Tca	p.P1112S		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AACACCCATGGAACCACATCA	0.393000														16			3		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25193953	25193953	+	Missense_Mutation	SNP	G	A	A	rs143491411	by1000genomes	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:25193953G>A	uc002wuj.2	+	4	688	c.508G>A	c.(508-510)Gac>Aac	p.D170N	ENTPD6_uc010zsy.1_Missense_Mutation_p.D170N|ENTPD6_uc010gdj.1_Missense_Mutation_p.D142N|ENTPD6_uc002wum.2_Missense_Mutation_p.D153N|ENTPD6_uc010zta.1_Missense_Mutation_p.D170N|ENTPD6_uc002wuk.2_Missense_Mutation_p.D169N|ENTPD6_uc002wul.2_Missense_Mutation_p.D169N|ENTPD6_uc010ztb.1_Missense_Mutation_p.D142N|ENTPD6_uc010ztc.1_Missense_Mutation_p.D142N|ENTPD6_uc002wuo.2_5'UTR|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc010ztd.1_5'UTR	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	170						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CATTCCGTTCGACTTCTGGAA	0.547000														65			12		0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75040305	75040305	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:75040305T>A	uc011cbk.2	+	1	253	c.226T>A	c.(226-228)Tcc>Acc	p.S76T	MTHFD2L_uc011cbj.2_Missense_Mutation_p.S18T|MTHFD2L_uc003hhn.1_Missense_Mutation_p.S18T|MTHFD2L_uc003hho.2_Non-coding_Transcript|MTHFD2L_uc003hhs.2_Non-coding_Transcript	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	18					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATCATGGGTTTCCCTTGGAAA	0.423000														23			9		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9413102	9413102	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9413102G>A	uc002mlc.1	-	1	127	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTCTGTAGAGGTTTCTCTGA	0.423000														52			24		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77317424	77317424	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:77317424C>T	uc003hkb.4	-	2	439	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CCDC158_uc003hkd.3_Missense_Mutation_p.E96K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	96								p.E96K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAACTCACTTCATTTAGTCTT	0.393000														22			9		0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170428363	170428363	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:170428363G>C	uc002uev.4	-	1	565	c.177C>G	c.(175-177)aaC>aaG	p.N59K	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Missense_Mutation_p.N45K|FASTKD1_uc002uey.2_Missense_Mutation_p.N45K	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	59					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTATGGCTTTGTTTCTTTCAA	0.373000														28			13		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306400	3306401	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3306400_3306401TC>AT	uc002cun.1	-	0	227_228	c.187_188GA>AT	c.(187-189)gaa>ATa	p.E63I	MEFV_uc021tbw.1_Missense_Mutation_p.E63I|MEFV_uc021tbx.1_Nonsense_Mutation_p.K3*|MEFV_uc021tby.1_Nonsense_Mutation_p.K3*|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Nonsense_Mutation_p.K3*	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	63	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCGTACTCTTCCCCATAGTAG	0.644000														68			15		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170734	113170734	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:113170734G>A	uc010mtz.3	-	37	7483	c.7146C>T	c.(7144-7146)acC>acT	p.T2382T	SVEP1_uc010mty.3_Silent_p.T308T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2382	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.T2385T(1)		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						GGGGAGGTGGGGTACAAAGAA	0.458000														25			8		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224033	23224034	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:23224033_23224034CC>TT	uc002dlm.1	+	8	1468_1469	c.1329_1330CC>TT	c.(1327-1332)gtccag>gtTTag	p.Q444*		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	444					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GAGCCTTTGTCCAGGAAGAGCT	0.594000														63			20		0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119347	68119347	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:68119347C>A	uc002aqy.1	+	2	1049	c.1049C>A	c.(1048-1050)cCc>cAc	p.P350H		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	394					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCACTTTTCCCCCATCCTTAC	0.667000														29			11		0.0135373	0.0136137	1	1	0
PTGDS	5730	broad.mit.edu	37	9	139874416	139874416	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139874416C>T	uc004cke.3	+	3	1380	c.350C>T	c.(349-351)tCc>tTc	p.S117F	PTGDS_uc004ckd.3_Non-coding_Transcript	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	117					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCACCTACTCCGTGTCAGTG	0.637000														108			36		0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4409738	4409738	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:4409738G>A	uc001lyy.1	-	3	640	c.527C>T	c.(526-528)tCt>tTt	p.S176F		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	176					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GTGAATCCTAGATTTCTGTGT	0.453000														218			58		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332216	70332216	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:70332216G>A	uc001oqc.3	-	20	4096	c.3984C>T	c.(3982-3984)ccC>ccT	p.P1328P	SHANK2_uc010rqn.2_Silent_p.P804P|SHANK2_uc001opz.3_Silent_p.P799P|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1015					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATGCCAGAGGGGGAGGAGGGA	0.577000														70			13		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476441	57476441	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:57476441G>A	uc009vzx.1	-	13	1915	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	DAB1_uc001cyt.1_Missense_Mutation_p.S530F|DAB1_uc001cyq.1_Missense_Mutation_p.S530F|DAB1_uc001cyr.1_Missense_Mutation_p.S446F|DAB1_uc009vzw.1_Missense_Mutation_p.S514F|DAB1_uc001cys.1_Missense_Mutation_p.S532F	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	565					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATCACTGTTGGATGAGGCCTG	0.438000														62			26		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113564878	113564878	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:113564878C>T	uc003ynu.3	-	25	4465	c.4306G>A	c.(4306-4308)Gac>Aac	p.D1436N	CSMD3_uc003yns.3_Missense_Mutation_p.D708N|CSMD3_uc003ynt.3_Missense_Mutation_p.D1396N|CSMD3_uc011lhx.2_Missense_Mutation_p.D1332N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1436	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTTATTGTCATATGGAAAA	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				37			10		0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117595802	117595803	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:117595802_117595803CC>TT	uc001twk.3	-	9	1452_1453	c.1413_1414GG>AA	c.(1411-1416)ctggtg>ctAAtg	p.V472M	FBXO21_uc001twj.3_Missense_Mutation_p.V465M|FBXO21_uc009zwq.3_Missense_Mutation_p.V405M	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	472					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTGTGCTGCACCAGGTAGCCCA	0.530000														221			58		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949922	56949922	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:56949922C>T	uc001njl.2	+	0	702	c.555C>T	c.(553-555)atC>atT	p.I185I		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	155						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TAGTCCACATCGACCTGAGCC	0.612000														38			10		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199202	118199202	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:118199202C>T	uc001two.2	-	3	568	c.513G>A	c.(511-513)agG>agA	p.R171R		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	200					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACGGGACCCTGGGGCTCT	0.672000														47			7		0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979163	51979163	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:51979163C>T	uc003dby.3	+	5	1155	c.784C>T	c.(784-786)Ccg>Tcg	p.P262S	PARP3_uc003dbz.3_Missense_Mutation_p.P269S	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	262	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCGTCATCCCGCACAACTT	0.642000														109			24		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32218714	32218715	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:32218714_32218715CC>TT	uc011alu.2	+	23	2244_2245	c.2042_2043CC>TT	c.(2041-2043)tcc>tTT	p.S681F	DEPDC5_uc011als.2_Intron|DEPDC5_uc003als.3_Missense_Mutation_p.S681F|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Missense_Mutation_p.S681F|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Missense_Mutation_p.S121F|DEPDC5_uc011alw.1_Missense_Mutation_p.S2F|DEPDC5_uc011alt.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	681					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GACGGCATGTCCTTCTTGAACT	0.510000														21			19		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614919	3614919	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3614919G>A	uc010btn.3	-	3	530	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	40					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGGGCCTGGGAGCCTTGACT	0.711000														33			9		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14756009	14756009	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:14756009G>A	uc003jfm.4	-	3	808	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	159					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453000														52			12		0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84367239	84367239	+	Splice_Site	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:84367239A>G	uc003hom.3	-	5	1572	c.1393_splice	c.e5-1	p.L465_splice	HELQ_uc010ikb.3_Splice_Site_p.L398_splice|HELQ_uc003hol.4_Splice_Site|HELQ_uc010ikc.3_Splice_Site	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	465	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATCATGTGCAACTTCGAGATT	0.343000								Other identified genes with known or suspected DNA repair function						34			16		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482856	71482856	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:71482856G>A	uc002faf.3	-	5	1886	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y	ZNF23_uc002fah.3_Missense_Mutation_p.H358Y|ZNF23_uc002fad.3_Missense_Mutation_p.H300Y|ZNF23_uc010vmf.2_Missense_Mutation_p.H300Y|ZNF23_uc002fag.3_Missense_Mutation_p.H300Y|ZNF23_uc002fai.3_Missense_Mutation_p.H397Y	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCTCCTGTGTGGATGCTCTGA	0.428000														22			15		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44478306	44478306	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:44478306C>T	uc002zcu.2	-	14	1661	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	CBS_uc002zcs.1_Silent_p.K367K|CBS_uc002zct.2_Silent_p.K472K|CBS_uc002zcw.3_Silent_p.K472K|CBS_uc002zcv.2_Silent_p.K472K	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	472	CBS.				L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACGGCTGCACCTTCCCGGCAA	0.577000														41			9		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24431891	24431891	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:24431891G>A	uc002zzi.1	+	2	54	c.-73_splice	c.e2-1		CABIN1_uc021wnc.1_Splice_Site|CABIN1_uc002zzj.1_Splice_Site|CABIN1_uc002zzl.2_Splice_Site|CABIN1_uc010guk.1_Splice_Site|CABIN1_uc002zzk.2_Splice_Site	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCCTTTCTAGGAGAGTTGTG	0.507000														34			5		0	0	1	0	0
C9orf142	286257	broad.mit.edu	37	9	139887630	139887631	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139887630_139887631CC>TT	uc004cki.3	+	3	382_383	c.356_357CC>TT	c.(355-357)ccc>cTT	p.P119L		NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	Homo sapiens chromosome 9 open reading frame 142 (C9orf142), mRNA.	119												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGGCAGCCCCCAGGCTGCGGG	0.658000														52			8		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84482159	84482159	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:84482159C>T	uc010chj.3	+	16	1613	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	ATP2C2_uc002fhx.3_Silent_p.F508F|ATP2C2_uc002fhy.3_Silent_p.F525F|ATP2C2_uc002fhz.3_Silent_p.F357F	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	508					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACATTTACTTCATGAAAGGGG	0.527000														41			27		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176998844	176998844	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:176998844G>A	uc001glc.3	-	4	1258	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	ASTN1_uc001glb.1_Missense_Mutation_p.S349F|ASTN1_uc001gld.1_Missense_Mutation_p.S349F|ASTN1_uc009wwx.1_Missense_Mutation_p.S349F|ASTN1_uc001gle.4_Non-coding_Transcript|MIR488_uc021pfc.1_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	349					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTGTGCCAGAATCCCCTTC	0.507000														15			5		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148220	93148220	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:93148220G>A	uc001pdq.3	+	12	1678	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	CCDC67_uc001pdo.1_Silent_p.S526S	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	526										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TGCCACCTTCGACATTTCAAG	0.413000														60			18		0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037749	50037750	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:50037749_50037750CC>TT	uc001rur.1	+	23	2548_2549	c.2485_2486CC>TT	c.(2485-2487)cct>TTt	p.P829F	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Missense_Mutation_p.P816F|PRPF40B_uc001rus.1_Missense_Mutation_p.P771F|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	829					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGCAGAGCTCCCTAACCGTTCC	0.574000														79			12		0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175225444	175225445	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:175225444_175225445CT>TC	uc010iro.2	+	5	736_737	c.431_432CT>TC	c.(430-432)cct>cTC	p.P144L	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Missense_Mutation_p.P144L	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	144						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AAGTCAGAACCTCCTTTGGGCA	0.351000														42			10		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43436461	43436461	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:43436461C>T	uc003tid.1	+	6	1209	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	HECW1_uc011kbi.1_Missense_Mutation_p.R202W|HECW1_uc003tie.1_Missense_Mutation_p.R234W	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	202	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACAAGGAAGTCGGAGGCTGAT	0.423000														51			14		0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482296	69482296	+	Silent	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:69482296A>T	uc001opc.3	-	4	563	c.405T>A	c.(403-405)ctT>ctA	p.L135L	ORAOV1_uc010rqi.1_Intron|ORAOV1_uc009ysm.3_Non-coding_Transcript|ORAOV1_uc001opd.3_Silent_p.L76L	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Homo sapiens oral cancer overexpressed 1 (ORAOV1), mRNA.	135										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CTCAAAATGAAAGTCCGGAAC	0.428000														38			10		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39847324	39847324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:39847324C>T	uc010lwy.1	+	7	915	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_5'UTR|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	212					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACTGTCTATTCAGGACATCAC	0.562000											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			4		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183776271	183776271	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:183776271C>T	uc003fmk.3	+	5	650	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	206						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACACGTCTCGCAAAGTCAT	0.547000														31			12		0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548479	22548479	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:22548479G>C	uc003xcm.1	-	1	1029	c.671C>G	c.(670-672)cCt>cGt	p.P224R	EGR3_uc011kzn.1_Missense_Mutation_p.P186R|EGR3_uc011kzo.2_Missense_Mutation_p.P170R	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	224					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		AGGGGTAATAGGGGGCGGGTT	0.617000														93			20		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454320	48454320	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:48454320C>T	uc003csw.2	-	24	4955	c.4685G>A	c.(4684-4686)gGc>gAc	p.G1562D	PLXNB1_uc003cst.2_Missense_Mutation_p.G12D|PLXNB1_uc003csu.2_Missense_Mutation_p.G1379D|PLXNB1_uc003csx.2_Missense_Mutation_p.G1562D	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1562					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)		GAAGGGGATGCCGCTGCCCAG	0.582000														61			4		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189923166	189923166	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:189923166C>T	uc002uqk.3	-	32	2493	c.2218G>A	c.(2218-2220)Gat>Aat	p.D740N	COL5A2_uc010frx.3_Missense_Mutation_p.D316N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	740					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTTGGGCCATCAGGACCATGT	0.433000														40			15		0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111752	186111752	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:186111752G>A	uc003ixf.4	-	1	746	c.599C>T	c.(598-600)tCg>tTg	p.S200L	KIAA1430_uc003ixg.3_Missense_Mutation_p.S200L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	200	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TGACGGAGACGAATCAGATAG	0.408000														11			6		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4446005	4446005	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:4446005G>C	uc002fxz.4	-	20	2986	c.2924C>G	c.(2923-2925)aCc>aGc	p.T975S	MYBBP1A_uc002fyb.4_Missense_Mutation_p.T975S|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.T17S	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	975					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTACACCCGGGTCACCAGGTT	0.647000														107			21		0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27356218	27356219	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:27356218_27356219GG>AA	uc002don.3	+	4	480_481	c.238_239GG>AA	c.(238-240)gga>AAa	p.G80K	IL4R_uc002dom.3_Missense_Mutation_p.G80K|IL4R_uc002dop.4_Missense_Mutation_p.G65K|IL4R_uc010bxy.3_Missense_Mutation_p.G80K|IL4R_uc002doo.3_5'UTR	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	80					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.G80*(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGAGAACAACGGAGGCGCGGGG	0.629000														43			13		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364047	42364047	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:42364047C>T	uc001zox.3	-	14	1593	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	500	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)		CCGAAGAGCTCAGGAGGGACG	0.607000														49			8		0	0	1	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34403983	34403983	+	RNA	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:34403983C>T	uc002edv.1	-	0		c.780G>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		CCCCCCAAACCCCTACCGATG	0.597000														8			4		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65561833	65561833	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:65561833G>A	uc002sdr.4	-	2	814	c.279C>T	c.(277-279)gtC>gtT	p.V93V	SPRED2_uc010fcw.3_Silent_p.V90V|SPRED2_uc010fcx.1_Intron	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	93	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TCCTATTATCGACCTTCCAGT	0.458000														106			24		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104149445	104149445	+	Silent	SNP	G	A	A	rs140590853		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:104149445G>A	uc001tjw.3	+	62	7122	c.6936G>A	c.(6934-6936)ggG>ggA	p.G2312G	STAB2_uc009zug.3_Intron	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2312	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G2312G(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CATGCAGTGGGAACCTGCTGC	0.577000														65			29		0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96124332	96124332	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:96124332C>T	uc003kmm.3	-	10	1928	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	ERAP1_uc003kml.3_Silent_p.Q527Q|ERAP1_uc010jbm.2_Silent_p.Q339Q|ERAP1_uc003kmn.3_Silent_p.Q527Q	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	527					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GAAAACCCTTCTGCAGTGTCC	0.507000														32			12		0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797606	241797606	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:241797606G>A	uc001hzd.3	-	0	1627	c.1463C>T	c.(1462-1464)gCt>gTt	p.A488V	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	488					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GACCCGTACAGCACAAGCTCC	0.423000														52			15		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183091	55183091	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:55183091C>T	uc010wnl.2	+	2	548	c.266C>T	c.(265-267)cCt>cTt	p.P89L	AKAP1_uc002iux.3_Missense_Mutation_p.P89L|AKAP1_uc021uak.1_Missense_Mutation_p.P89L|AKAP1_uc010dcm.3_Missense_Mutation_p.P89L|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	89					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGCAAGCTGCCTGCAGAGCCC	0.572000														37			7		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154735476	154735476	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:154735476C>T	uc021zhc.1	-	9	1532	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	CNKSR3_uc003qpy.3_Missense_Mutation_p.D343N	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	343	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATATAAAGATCCAGGATGGCT	0.498000														26			21		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605070	48605070	+	Splice_Site	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:48605070C>T	uc003ctz.2	-	108	7985	c.7984_splice	c.e108-1	p.G2662_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2662	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGCTCCCCCTGGAGAAAAA	0.637000														101			40		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	A	A	rs149331677	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:20404428G>A	uc001vwj.2	+	0	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000														56			14		0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102948132	102948132	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:102948132C>T	uc003vbk.1	+	6	860	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	PMPCB_uc010liu.1_Missense_Mutation_p.P276S|PMPCB_uc003vbl.3_Missense_Mutation_p.P276S|PMPCB_uc011kll.1_Missense_Mutation_p.P171S|PMPCB_uc011klm.1_Missense_Mutation_p.P151S	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	276					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTCTGCCTCCCTGCAAATT	0.398000														25			11		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35561051	35561051	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:35561051C>T	uc003zww.3	+	10	4561	c.4306C>T	c.(4306-4308)Ctg>Ttg	p.L1436L	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.L1436L	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1436						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAAGGAGAGCCTGCAGGAGCC	0.662000														25			8		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525363	248525363	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:248525363C>T	uc001ieh.1	+	0	481	c.481C>T	c.(481-483)Cct>Tct	p.P161S		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P161H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTGCCATCCTCTCCGTTA	0.522000														153			50		0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	268058	268058	+	Splice_Site	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:268058C>A	uc002kkj.4	-	1	1	c.-39_splice	c.e1-1		THOC1_uc002kkl.2_Splice_Site	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.						RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GCTGCGGCGCCTGCCGATGAC	0.667000														1			2		0.00024832	0.000250428	1	1	0
ZNF507	22847	broad.mit.edu	37	19	32845058	32845058	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:32845058T>C	uc002nte.3	+	2	1594	c.1322T>C	c.(1321-1323)gTt>gCt	p.V441A	ZNF507_uc002ntc.2_Missense_Mutation_p.V441A|ZNF507_uc010xrn.1_Missense_Mutation_p.V441A|ZNF507_uc002ntd.3_Missense_Mutation_p.V441A	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATGGATGATGTTTATCGTGCT	0.453000														86			30		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31748802	31748802	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:31748802G>A	uc003nxe.3	-	21	3066	c.2643C>T	c.(2641-2643)tcC>tcT	p.S881S	VARS_uc021yuy.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	881					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCACCTGCAGGGAGATTCCAT	0.617000														45			14		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444846	234444847	+	Splice_Site	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:234444846_234444847GG>AA	uc001hvy.1	+	4	754	c.609_splice	c.e4-1	p.R203_splice	SLC35F3_uc001hwa.1_Splice_Site_p.R134_splice	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	134					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCTTGTTTTAGGGAATGCTGTC	0.376000														33			5		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266309	38266309	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:38266309G>A	uc010abx.3	-	3	1296	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.P354L|TRPC4_uc001uws.3_Missense_Mutation_p.P354L|TRPC4_uc010tey.2_Missense_Mutation_p.P354L|TRPC4_uc010abw.3_Missense_Mutation_p.P181L|TRPC4_uc010aby.3_Missense_Mutation_p.P354L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	354					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGTCCAAGTGGGCTTTTGGG	0.458000														21			14		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825589	26825589	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:26825589C>T	uc001zbb.3	-	6	830	c.727G>A	c.(727-729)Gat>Aat	p.D243N	GABRB3_uc021sgg.1_Missense_Mutation_p.D116N|GABRB3_uc021sgh.1_Missense_Mutation_p.D102N|GABRB3_uc001zaz.3_Missense_Mutation_p.D187N|GABRB3_uc001zba.3_Missense_Mutation_p.D187N	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	187					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCAATGTCATCCGTGGTGTAG	0.502000														79			10		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484287	123484287	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:123484287C>T	uc001pyw.2	+	15	2069	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	GRAMD1B_uc001pyx.2_Silent_p.V573V|GRAMD1B_uc010rzw.2_Silent_p.V533V|GRAMD1B_uc010rzx.1_Silent_p.V533V|GRAMD1B_uc001pyy.2_Silent_p.V264V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	573						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACCTGCGAGTCCCTCACCTGG	0.587000														27			5		0	0	1	0	0
CDR2L	30850	broad.mit.edu	37	17	72999951	72999951	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:72999951C>T	uc002jml.4	+	4	1592	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W		NM_014603	NP_055418	Q86X02	CDR2L_HUMAN	Homo sapiens cerebellar degeneration-related protein 2-like (CDR2L), mRNA.	394												all_lung(278;0.226)					CCCCATCTCCCGGGACAGCTC	0.701000														6			4		0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947832	68947832	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:68947832G>A	uc001dem.4	-	7	1776	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	DEPDC1_uc001dej.4_5'UTR|DEPDC1_uc001dek.4_Intron|DEPDC1_uc001del.4_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	553					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAGACTCTCCGAGTTCACTTT	0.388000														126			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057378	9057378	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9057378G>A	uc002mkp.3	-	2	30272	c.30068C>T	c.(30067-30069)tCt>tTt	p.S10023F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10025	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACAACAGAGAAGATGAAGA	0.438000														37			15		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283370	5283370	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:5283370G>A	uc010zqw.2	-	1	479	c.471C>T	c.(469-471)atC>atT	p.I157I	PROKR2_uc010zqx.2_Silent_p.I157I|PROKR2_uc010zqy.2_Silent_p.I157I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	157						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGGGGTGAACGATGGCGAGAT	0.478000										HNSCC(71;0.22)				70			24		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722039	39722039	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:39722039C>T	uc001wux.3	+	4	1849	c.1655C>T	c.(1654-1656)tCg>tTg	p.S552L		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GATGAAAATTCGAAACCATCA	0.378000														35			10		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029246	37029246	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:37029246A>C	uc004ddl.2	+	0	2815	c.2763A>C	c.(2761-2763)aaA>aaC	p.K921N		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	921										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGACGGGAAAATCCAGAATG	0.458000														21			22		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17861179	17861179	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:17861179G>A	uc003stv.3	-	17	2011	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	SNX13_uc010kuc.3_Missense_Mutation_p.R397C|SNX13_uc003stw.1_Missense_Mutation_p.R611C|SNX13_uc010kub.3_Missense_Mutation_p.R6C	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	611	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	p.Y599C(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CTATAACGACGATAGGTTTTC	0.388000														81			21		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91348089	91348089	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:91348089C>T	uc001tbj.3	-	0	865	c.431G>A	c.(430-432)gGc>gAc	p.G144D		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	144								p.G144D(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GCCTCTGCGGCCCCAGCGCTT	0.697000														30			7		0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838224	20838224	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:20838224C>T	uc002rdw.1	-	3	636	c.595G>A	c.(595-597)Gag>Aag	p.E199K	HS1BP3_uc002rdx.3_Missense_Mutation_p.E199K	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	199	Poly-Glu.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGCGCCTCCTCCTCCTCC	0.582000														28			6		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868727	201868727	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:201868727C>T	uc021phl.1	-	1	1662	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N	LMOD1_uc021phm.1_Missense_Mutation_p.D472N|LMOD1_uc010ppu.2_Missense_Mutation_p.D421N	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	472					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCTGCTTGTCCATGTTGCGG	0.587000														12			8		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136709570	136709570	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:136709570C>T	uc011edg.2	-	4	802	c.553G>A	c.(553-555)Gga>Aga	p.G185R	MAP7_uc011edf.2_Missense_Mutation_p.G148R|MAP7_uc010kgu.3_Missense_Mutation_p.G185R|MAP7_uc011edh.2_Missense_Mutation_p.G185R|MAP7_uc010kgv.3_Missense_Mutation_p.G185R|MAP7_uc010kgs.3_Missense_Mutation_p.G17R|MAP7_uc011edi.2_Missense_Mutation_p.G17R|MAP7_uc010kgq.2_Intron|MAP7_uc003qgz.3_Missense_Mutation_p.G163R|MAP7_uc003qha.2_Missense_Mutation_p.G163R|MAP7_uc010kgr.2_Missense_Mutation_p.G17R|MAP7_uc010kgt.2_Missense_Mutation_p.G185R	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	163					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGAGAGCCTCCCCACGACCAA	0.483000														116			49		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	50971419	50971419	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:50971419G>A	uc011bds.2	+	4	249	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	76						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TAGGCAGTATGAAACTGTGGT	0.393000														15			5		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057934	53057934	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:53057934C>T	uc010epq.1	+	4	1942	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCGTAGACTTCATACTGGAGA	0.368000														70			18		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18058687	18058687	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:18058687G>A	uc021trm.1	+	45	8619	c.8400G>A	c.(8398-8400)ctG>ctA	p.L2800L	MYO15A_uc021trl.1_Silent_p.L2798L|MYO15A_uc010vxi.2_Silent_p.L64L|MYO15A_uc010vxj.1_5'UTR|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2800	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAAACTCCTGAGGATGGTCA	0.647000														84			44		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62986505	62986505	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:62986505C>T	uc001sre.3	+	34	5521	c.5130C>T	c.(5128-5130)tcC>tcT	p.S1710S	MON2_uc010ssn.2_Silent_p.S1704S|MON2_uc009zqj.3_3'UTR|MON2_uc010ssl.2_Silent_p.S1638S|MON2_uc010ssm.2_Silent_p.S1681S|MON2_uc001srf.3_Silent_p.S1473S|MON2_uc001srg.3_Silent_p.S579S	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1711					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CACCAGCATCCAGAGTTCAAA	0.393000														70			10		0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103108553	103108553	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:103108553G>A	uc004bas.3	-	3	1153	c.938C>T	c.(937-939)tCt>tTt	p.S313F	TEX10_uc011lvf.2_Missense_Mutation_p.S152F|TEX10_uc011lvg.2_Missense_Mutation_p.S316F|TEX10_uc011lvh.1_Missense_Mutation_p.S248F	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	313						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GTTTTCAGTAGATGACAGGCC	0.368000														39			4		0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38340481	38340481	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:38340481C>T	uc003auj.2	-	5	734	c.525G>A	c.(523-525)atG>atA	p.M175I	C22orf23_uc021wpl.1_Missense_Mutation_p.M154I	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	175								p.M175T(1)		endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCAGGGCCTCCATGTCAGCCA	0.572000														27			16		0	0	1	0	0
PUS3	83480	broad.mit.edu	37	11	125763873	125763873	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:125763873G>A	uc001qcy.2	-	3	1351	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	HYLS1_uc009zbv.3_Intron|HYLS1_uc001qcx.4_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	Homo sapiens pseudouridylate synthase 3 (PUS3), mRNA.	418						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTGGCATTTAGGACGGTCCAT	0.468000														126			32		0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20818980	20818980	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:20818980G>A	uc002rdw.1	-	6	987	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	316					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGGTTCAGAATCTGGTCC	0.572000														34			7		0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86850382	86850382	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:86850382G>A	uc001dll.2	-	3	711	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	ODF2L_uc001dlp.3_Missense_Mutation_p.L117F|ODF2L_uc010osg.2_Missense_Mutation_p.L117F|ODF2L_uc001dlm.2_Missense_Mutation_p.L117F|ODF2L_uc021opg.1_5'UTR|ODF2L_uc001dlq.2_Intron|ODF2L_uc009wcr.2_Intron	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	117						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTCTTTCTAAGAAGATGTTCT	0.289000														27			4		0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112843836	112843836	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:112843836G>A	uc001ttu.3	-	5	764	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	RPL6_uc001ttv.3_Silent_p.L179L	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA.	179				GPLVLNR -> DLWSSIE (in Ref. 1; CAA49188).	endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TTGAGGACCAGAGGTCCTAAG	0.388000														27			7		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120285521	120285521	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:120285521C>A	uc001ehz.3	+	10	1528	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D	PHGDH_uc009whm.3_Missense_Mutation_p.A332D|PHGDH_uc001eib.3_Missense_Mutation_p.A400D	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	434					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCTTACCAGGCTGTGGGCTTG	0.657000														45			12		2.27111e-07	2.31001e-07	1	1	0
ERAP2	64167	broad.mit.edu	37	5	96215914	96215914	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:96215914C>T	uc003kmq.3	+	1	1235	c.525C>T	c.(523-525)ggC>ggT	p.G175G	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.G175G|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.G169G|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	175					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)		TAGGTGATGGCTTTGAAGGGT	0.408000														20			6		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932643	39932643	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:39932643G>A	uc004den.4	-	3	2248	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	BCOR_uc004dep.4_Silent_p.P652P|BCOR_uc004deo.4_Silent_p.P652P|BCOR_uc004dem.4_Silent_p.P652P|BCOR_uc004deq.4_Silent_p.P652P	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	652	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTGGGGTAGGGAATTGGTG	0.527000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							11			9		0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20649538	20649538	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:20649538G>T	uc003ndd.2	+	4	468	c.301G>T	c.(301-303)Gca>Tca	p.A101S	CDKAL1_uc003nde.2_Missense_Mutation_p.A31S|CDKAL1_uc021ymk.1_Missense_Mutation_p.A101S	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	101	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGCATCCGATGCAGATTTATG	0.348000														40			11		0.0809354	0.0812393	1	1	0
ASAP3	55616	broad.mit.edu	37	1	23760146	23760146	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:23760146C>T	uc001bha.2	-	19	2116	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	ASAP3_uc001bgy.1_Silent_p.K168K|ASAP3_uc010odz.1_Silent_p.K533K|ASAP3_uc010oea.1_Silent_p.K655K	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	664					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGTGGTGCTTCTTCCTGGCTA	0.547000														59			14		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397744	10397744	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:10397744G>A	uc002mnr.2	+	0	102	c.56G>A	c.(55-57)gGa>gAa	p.G19E	ICAM4_uc002mns.2_Missense_Mutation_p.G19E|ICAM4_uc002mnt.2_Missense_Mutation_p.G19E|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	19				AAAYPGVGSALGRRTK -> RPPTRELGARWDAGL (in Ref. 1; AAA59538/AAA59537).	cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCTACCCGGGAGTTGGGAGC	0.677000														5			5		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655434	19655434	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19655434G>A	uc002nmw.4	+	7	2183	c.2098G>A	c.(2098-2100)Gag>Aag	p.E700K	CILP2_uc002nmv.4_Missense_Mutation_p.E694K	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	694						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGGAGGAGGAGAGCGGCTT	0.726000														10			4		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826841	92826841	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:92826841G>A	uc011khy.2	-	5	1187	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	HEPACAM2_uc003uml.3_Silent_p.S353S|HEPACAM2_uc010lff.3_Silent_p.S353S|HEPACAM2_uc003umm.3_Silent_p.S365S	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	365						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAAGACACATGGATATAATCA	0.294000														19			10		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554131	28554131	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:28554131C>T	uc003nlo.3	-	0	982	c.364G>A	c.(364-366)Gag>Aag	p.E122K	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	122	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTCACCACCTCTTCTCCACTC	0.527000														177			40		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736065	141736065	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:141736065C>T	uc003vwy.3	+	16	2110	c.2056C>T	c.(2056-2058)Cac>Tac	p.H686Y		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	686	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCTAGAAATCACAATGGCCA	0.478000														18			3		0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127256	146127256	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:146127256G>A	uc003qla.3	-	1	485	c.286C>T	c.(286-288)Cga>Tga	p.R96*	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	96							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ACTGGCCATCGATTCCATTCC	0.433000														88			52		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889975	30889975	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:30889975G>A	uc003xin.3	-	0	343	c.324C>T	c.(322-324)tcC>tcT	p.S108S	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Silent_p.S108S	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	108						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCACAGACAGGGAGAGGGTCA	0.582000														81			16		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501596	90501596	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:90501596G>A	uc004app.4	+	3	2229	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	FAM75E1_uc004apo.1_Missense_Mutation_p.E544K	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	732						integral to membrane											GGCTCTGGACGAAGACAAGGA	0.557000														41			8		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159652	152159652	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:152159652C>T	uc022chn.1	-	0	491	c.491G>A	c.(490-492)gGa>gAa	p.G164E	PNMA5_uc010ntx.3_Missense_Mutation_p.G164E|PNMA5_uc010ntw.3_Missense_Mutation_p.G164E|PNMA5_uc004fgy.4_Missense_Mutation_p.G164E|PNMA5_uc022chm.1_Missense_Mutation_p.G164E	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	164					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGCAGTTCCCGAAAACAC	0.522000														43			43		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514404	98514404	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:98514404C>T	uc010bom.3	+	7	1403	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ARRDC4_uc002bui.4_Missense_Mutation_p.S328F	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	415					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CAGCCTGTTTCCTTCATTCTC	0.398000														79			23		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106163551	106163551	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:106163551G>A	uc001kyh.3	+	13	2238	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	702										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCCCTGGAGGAGGAGCTGGA	0.488000														13			5		0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127520150	127520150	+	Silent	SNP	C	T	T	rs143179971		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:127520150C>T	uc001ljd.4	+	4	596	c.573C>T	c.(571-573)atC>atT	p.I191I	BCCIP_uc021qar.1_Silent_p.I191I|BCCIP_uc001ljb.4_Silent_p.I191I|BCCIP_uc001ljc.4_Silent_p.I191I|BCCIP_uc010quj.2_Silent_p.I161I	NM_016567	NP_057651	Q9P287	BCCIP_HUMAN	Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript variant A, mRNA.	191	Interaction with CDKN1A.				DNA repair|cell cycle|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCACAGATCGCTCTGCCCA	0.388000														42			16		0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636173	44636173	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:44636173C>T	uc003cnl.1	+	2	821	c.488C>T	c.(487-489)tCt>tTt	p.S163F	ZNF660_uc021wwp.1_Missense_Mutation_p.S163F	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAGCCCTATTCTTGTATTGAG	0.438000														91			27		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234529414	234529414	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:234529414G>A	uc001hwd.3	-	26	4413	c.4413C>T	c.(4411-4413)atC>atT	p.I1471I		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1471					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCGGTTTGTCGATGAGCGAGG	0.463000														56			17		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520121	129520121	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:129520121C>T	uc003kvd.3	+	2	1286	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	429						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGGGAAAGTGCCCTGATGAGC	0.493000														41			11		0	0	1	0	0
YIF1A	10897	broad.mit.edu	37	11	66055103	66055104	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:66055103_66055104CC>TT	uc001ohk.4	-	3	574_575	c.392_393GG>AA	c.(391-393)cgg>cAA	p.R131Q	YIF1A_uc009yrc.3_Missense_Mutation_p.R96Q	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	131					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane		p.R131L(2)|p.P130P(1)|p.P130R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGAGGTCTTGCCGGGGGGGCAG	0.624000														18			6		0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92881867	92881868	+	Silent	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:92881867_92881868GG>AA	uc001pdn.3	-	10	1447_1448	c.1350_1351CC>TT	c.(1348-1353)gtcctg>gtTTtg	p.450_451VL>VL	AK093898_uc001pdl.1_5'Flank|SLC36A4_uc001pdm.3_Silent_p.315_316VL>VL	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	450					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATATTTTTCAGGACCATCCATA	0.376000														55			13		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369519	139369519	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139369519G>A	uc004chx.3	-	2	2858	c.2549C>T	c.(2548-2550)tCg>tTg	p.S850L	SEC16A_uc004chv.4_Intron|SEC16A_uc004chw.3_Missense_Mutation_p.S850L|SEC16A_uc010nbn.3_Missense_Mutation_p.S850L|SEC16A_uc010nbo.1_Missense_Mutation_p.S850L	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	672					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane		p.S850S(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATGAGAGTTCGATAAGGACAC	0.512000														24			5		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777563	141777563	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:141777563G>A	uc002tvj.1	-	11	2870	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	633					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCGACTCTGAGAAGCTTTTTC	0.418000										TSP Lung(27;0.18)				73			14		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055574	64055575	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:64055574_64055575CC>TT	uc010rni.2	+	5	873_874	c.845_846CC>TT	c.(844-846)gcc>gTT	p.A282V	GPR137_uc010rnj.2_Missense_Mutation_p.A224V|GPR137_uc001nze.2_Missense_Mutation_p.A224V|GPR137_uc001nzf.3_Intron|GPR137_uc001nzi.3_Missense_Mutation_p.A224V|GPR137_uc021qkt.1_Missense_Mutation_p.A224V	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	224						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ATGGGTGGCGCCATGGTCCTGC	0.634000														74			19		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141008926	141008926	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:141008926C>T	uc004cog.3	+	39	5772	c.5627C>T	c.(5626-5628)cCt>cTt	p.P1876L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1876L|CACNA1B_uc004coi.3_Missense_Mutation_p.P1090L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1878					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGCAGGCTCCTGGAGGCCTC	0.562000														7			4		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192384	179192384	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:179192384G>A	uc003mkm.3	+	1	636	c.373G>A	c.(373-375)Gat>Aat	p.D125N	MAML1_uc003mkn.1_Missense_Mutation_p.D125N	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	125					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.D125N(2)|p.D162N(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGAATGGCGATCAACAGAA	0.478000														61			15		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133888	74133888	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:74133888C>T	uc002jqx.3	-	2	1167	c.812G>A	c.(811-813)gGg>gAg	p.G271E	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	271				GWGAGEGRLGHKRKQPLPKRVAKVPR -> VWVQARAGWDI SPNTLCPRGGQGPA (in Ref. 2; CAA67729).	actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GCGCTTATGCCCCAGCCTGCC	0.736000														15			4		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219257709	219257709	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:219257709C>T	uc002vhv.3	+	11	1510	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SLC11A1_uc010fvp.1_3'UTR|SLC11A1_uc010fvq.1_3'UTR|SLC11A1_uc010zkc.1_Silent_p.F323F|SLC11A1_uc002vhu.1_Silent_p.F185F|SLC11A1_uc002vhw.3_Silent_p.F272F|SLC11A1_uc010fvr.3_Silent_p.F185F	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	390					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGGGCTTCCTGAGGCTGC	0.632000														47			10		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201644	248201644	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:248201644C>T	uc001idw.3	+	0	171	c.75C>T	c.(73-75)ttC>ttT	p.F25F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTGGCCTTTTCGTATTCACCC	0.378000														110			24		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016272	27016272	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:27016272G>A	uc001mrd.3	+	0	645	c.199G>A	c.(199-201)Ggg>Agg	p.G67R		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	67						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTGCTCCCAGGGGGAGGGGAG	0.667000														18			7		0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214051	11214052	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:11214051_11214052CC>TT	uc001qzp.1	-	0	842_843	c.842_843GG>AA	c.(841-843)tgg>tAA	p.W281*	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	281					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTTGTTTCCCCAAATCAGGAT	0.426000														168			20		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98205973	98205973	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:98205973G>A	uc001drv.3	-	3	433	c.296C>T	c.(295-297)tCa>tTa	p.S99L	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.S99L	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	99	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTGATGAATGATTTAATATC	0.328000														75			32		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834396	101834396	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:101834396C>T	uc001pgm.3	+	5	2900	c.2630C>T	c.(2629-2631)tCa>tTa	p.S877L	KIAA1377_uc001pgn.3_Missense_Mutation_p.S833L|KIAA1377_uc010run.2_Missense_Mutation_p.S678L|KIAA1377_uc009yxa.1_Missense_Mutation_p.S678L	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	877							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCACTGCCATCATATTGTTCT	0.418000														30			11		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64122706	64122706	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:64122706C>T	uc001nzy.3	+	24	4189	c.4140C>T	c.(4138-4140)tcC>tcT	p.S1380S	CCDC88B_uc001oaa.3_Missense_Mutation_p.P485L|CCDC88B_uc001oab.1_Silent_p.S211S|CCDC88B_uc001oac.3_5'UTR	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1380					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCAGAGCTCCCTCTGCCTGC	0.672000														12			3		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7712089	7712089	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:7712089C>G	uc010xjr.2	+	16	1572	c.1527C>G	c.(1525-1527)ttC>ttG	p.F509L	STXBP2_uc002mha.4_Missense_Mutation_p.F498L|STXBP2_uc002mhb.4_Missense_Mutation_p.F495L|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	498					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCCCTTCGTATCCGACC	0.736000														41			12		0	0	1	0	0
PLSCR3	57048	broad.mit.edu	37	17	7296609	7296609	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7296609C>T	uc002ggn.2	-	4	885	c.361G>A	c.(361-363)Gag>Aag	p.E121K	PLSCR3_uc002ggo.2_Missense_Mutation_p.E121K|PLSCR3_uc002ggm.2_Missense_Mutation_p.E121K|PLSCR3_uc002ggp.2_Intron|PLSCR3_uc002ggq.2_Intron|PLSCR3_uc010cmg.2_Missense_Mutation_p.E121K|PLSCR3_uc002ggr.2_Missense_Mutation_p.E121K	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	Homo sapiens phospholipid scramblase 3 (PLSCR3), transcript variant 1, mRNA.	121					phospholipid scrambling	integral to membrane|plasma membrane	SH3 domain binding|calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				TTGCTCTCCTCGGCCGCCTGA	0.711000														31			10		0	0	1	0	0
ECHS1	1892	broad.mit.edu	37	10	135178172	135178172	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:135178172G>A	uc001lmu.3	-	6	868	c.797C>T	c.(796-798)aCc>aTc	p.T266I		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	266					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AGTGGCAAAGGTTGAATAAAA	0.353000														17			7		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851965	26851965	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:26851965G>A	uc010crm.3	+	2	766	c.568G>A	c.(568-570)Gag>Aag	p.E190K	FOXN1_uc002hbj.3_Missense_Mutation_p.E190K	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	190					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCAGCCAGGAGCATGGCCC	0.627000														28			7		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519160	113519160	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:113519160C>T	uc010ljy.1	-	3	2018	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	663					glycogen metabolic process	integral to membrane		p.G663G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGATTTTCCCTGACTTTCC	0.363000														93			25		0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19231575	19231575	+	Splice_Site	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19231575C>A	uc002nlg.3	-	11	1216	c.1186_splice	c.e11+1	p.G396_splice	TMEM161A_uc002nli.3_Splice_Site_p.G293_splice	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	396					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCATCTCACCCAGCGTCTTGA	0.627000														57			20		3.5997e-14	3.67885e-14	1	1	0
HHATL	57467	broad.mit.edu	37	3	42742249	42742249	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:42742249C>T	uc003clw.3	-	2	217	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	HHATL_uc003clx.3_Missense_Mutation_p.A24T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	24					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCAGCATAGGCCAGGGCCCCA	0.652000														36			12		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035353	160035353	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:160035353C>T	uc002uag.3	+	13	2463	c.2189C>T	c.(2188-2190)cCc>cTc	p.P730L	TANC1_uc010fol.1_Missense_Mutation_p.P624L|TANC1_uc010zcm.2_Missense_Mutation_p.P722L|TANC1_uc010fom.1_Missense_Mutation_p.P536L	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	730						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGGTGGTGCCCGTGTCTCTC	0.562000														130			32		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682870	47682871	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:47682870_47682871CC>TT	uc003oyz.1	+	6	2060_2061	c.2060_2061CC>TT	c.(2059-2061)tcc>tTT	p.S687F	GPR115_uc003oza.1_Missense_Mutation_p.S630F|GPR115_uc003ozb.1_Missense_Mutation_p.S630F|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	630					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAAGGCACTTCCTTGACGTTCC	0.446000														71			31		0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17309722	17309722	+	RNA	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:17309722C>T	uc010gqr.1	+	1		c.878C>T								Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA.																		AAGTGGTTTCCCTCCTCTTCC	0.353000														6			3		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758091	5758091	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:5758091C>T	uc001mbt.2	+	0	414	c.345C>T	c.(343-345)ttC>ttT	p.F115F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.F115F|OR56B1_uc009yev.1_Silent_p.F115F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CCATTCACTTCTTTGTGGGCA	0.458000														37			13		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178348	47178348	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:47178348G>A	uc001rpi.2	-	6	869	c.470C>T	c.(469-471)tCc>tTc	p.S157F	SLC38A4_uc001rpj.2_Missense_Mutation_p.S157F|SLC38A4_uc009zkl.2_Missense_Mutation_p.S157F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	157					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTGTAATGGAAACAAAAGC	0.333000														35			8		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089378	43089378	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:43089378C>T	uc003bdb.3	-	2	841	c.580G>A	c.(580-582)Gac>Aac	p.D194N	A4GALT_uc021wqo.1_Missense_Mutation_p.D194N|A4GALT_uc021wqp.1_Missense_Mutation_p.D194N|A4GALT_uc010gzd.3_Missense_Mutation_p.D194N|A4GALT_uc021wqq.1_Missense_Mutation_p.D194N	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	194					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						ACAATGAAGTCCGTGTCCAGG	0.652000														56			12		0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089196	220089196	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:220089196G>A	uc001hlw.3	-	3	1264	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Silent_p.I106I|SLC30A10_uc001hlx.3_Silent_p.I126I	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	351					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TAGGATACTTGATGTGCAGGG	0.433000														90			29		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968710	119968710	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:119968710G>A	uc001txe.3	+	12	1858	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	465										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACTGCCAGAGGATCTAAAGAA	0.493000														38			17		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505192	158505192	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:158505192A>G	uc003qqx.2	+	21	3300	c.3194A>G	c.(3193-3195)cAt>cGt	p.H1065R	SYNJ2_uc003qqw.2_Missense_Mutation_p.H1065R|SYNJ2_uc003qqy.2_Missense_Mutation_p.H828R|SYNJ2_uc003qqz.2_Missense_Mutation_p.H682R|SYNJ2_uc003qra.2_Missense_Mutation_p.H408R	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1065							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGAAGCAGCATCCAACGTAC	0.557000														92			27		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135392471	135392471	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:135392471G>A	uc003lbf.4	+	11	1826	c.1665G>A	c.(1663-1665)cgG>cgA	p.R555R	TGFBI_uc003lbg.4_Silent_p.R288R|TGFBI_uc003lbh.4_Silent_p.R381R|TGFBI_uc011cyb.2_Silent_p.R381R	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	555	FAS1 4.		R -> Q (in CDTB; originally thought to cause CDRB).|R -> W (in CDGG1; common mutation in Europe and United States; rare in Japan).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGAGAACGGAGCAGACTCT	0.522000														13			5		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921094	24921094	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:24921094C>T	uc001ywo.3	+	0	554	c.80C>T	c.(79-81)cCc>cTc	p.P27L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCCCCGCTCCCCTGTCCCGG	0.701000														22			5		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21148719	21148719	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:21148719C>T	uc001iqi.3	-	7	1118	c.721G>A	c.(721-723)Gat>Aat	p.D241N	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	241					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTTTCTTATCCTTCATTTCA	0.299000														14			6		0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85665966	85665966	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:85665966C>T	uc009wcm.3	-	0	763	c.714G>A	c.(712-714)tcG>tcA	p.S238S	SYDE2_uc001dku.4_Silent_p.S238S	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	238					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTGGAGGCACCGACAGGACAC	0.547000														69			18		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521315	131521315	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:131521315C>T	uc021voy.1	+	0	1670	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	FAM123C_uc002trw.2_Missense_Mutation_p.A557V|FAM123C_uc010fmv.2_Missense_Mutation_p.A557V|FAM123C_uc010fms.1_Missense_Mutation_p.A557V|FAM123C_uc010fmt.1_Missense_Mutation_p.A557V|FAM123C_uc010fmu.1_Missense_Mutation_p.A557V	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	557										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCAGGGGGGGCGACAGTTTGC	0.701000														20			4		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618383	28618383	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:28618383G>A	uc002dqn.3	-	7	1253	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.R130C|SULT1A1_uc002dqi.3_Missense_Mutation_p.R130C|SULT1A1_uc002dqk.3_Missense_Mutation_p.R130C|SULT1A1_uc002dql.3_Missense_Mutation_p.R130C|SULT1A1_uc002dqm.3_Missense_Mutation_p.R52C|SULT1A1_uc002dqp.3_Missense_Mutation_p.R130C	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	130					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TTTGCGTTGCGGGCAACATAG	0.567000														49			19		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26552785	26552785	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:26552785G>A	uc001mqt.4	+	7	916	c.771G>A	c.(769-771)tgG>tgA	p.W257*	ANO3_uc010rdr.2_Nonsense_Mutation_p.W241*|ANO3_uc010rds.2_Nonsense_Mutation_p.W96*|ANO3_uc010rdt.2_Nonsense_Mutation_p.W111*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	257						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCAAAAACTGGATGGCCCAAA	0.443000														81			25		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25656761	25656761	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:25656761G>A	uc011awn.1	-	26	3569	c.3526C>T	c.(3526-3528)Ctt>Ttt	p.L1176F	TOP2B_uc003cdj.2_Missense_Mutation_p.L1171F|TOP2B_uc011awm.1_Missense_Mutation_p.L28F|TRNA_uc021wuh.1_5'Flank	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1176					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TTTCTTTTAAGATCATTGACC	0.284000														37			14		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129103951	129103951	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:129103951A>C	uc011koy.2	+	14	1658	c.1618A>C	c.(1618-1620)Atc>Ctc	p.I540L	FAM40B_uc003vow.3_Missense_Mutation_p.I540L|FAM40B_uc011koz.2_Missense_Mutation_p.I32L	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	540										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTATCAATATCCTGGCAGA	0.493000														39			6		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76969543	76969543	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:76969543C>T	uc001oyf.3	-	9	1003	c.752G>A	c.(751-753)aGa>aAa	p.R251K		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	251	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ATTGGTTGTTCTTTTCAGGTC	0.458000														101			25		0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36876823	36876823	+	Splice_Site	SNP	G	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:36876823G>T	uc002hqi.4	+	15	2366	c.2353_splice	c.e15+1	p.A785_splice	MLLT6_uc002hqj.3_Splice_Site_p.A220_splice|MLLT6_uc002hqk.4_Splice_Site_p.A116_splice|MLLT6_uc021twh.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	785					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)					CCTCCCCAAGGTGAGGGGATC	0.692000			T	MLL	AL									11			4		2.0095e-06	2.04003e-06	1	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47237949	47237949	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:47237949T>C	uc002ion.2	+	6	951	c.892T>C	c.(892-894)Ttt>Ctt	p.F298L	B4GALNT2_uc010wlt.1_Missense_Mutation_p.F212L|B4GALNT2_uc010wlu.1_Missense_Mutation_p.F238L	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	298					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGTGGCCAAGTTTCCAGTGAC	0.557000														195			67		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58564169	58564169	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:58564169G>A	uc002env.3	-	42	6553	c.6260C>T	c.(6259-6261)cCt>cTt	p.P2087L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P2082L|CNOT1_uc002ent.3_Missense_Mutation_p.P25L|CNOT1_uc010vik.2_Missense_Mutation_p.P1044L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2087					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GATTTGCATAGGTTTGGTGAG	0.328000														55			4		0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048330	90048330	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:90048330C>T	uc001dni.3	+	6	628	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	LRRC8B_uc001dnh.3_Silent_p.L41L|LRRC8B_uc001dnj.3_Silent_p.L41L	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	41						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GGTGGCCGTGCTGGCCGGAGC	0.507000														86			27		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48539889	48539889	+	Silent	SNP	C	T	T	rs141937528		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:48539889C>T	uc010wmm.1	+	6	914	c.810C>T	c.(808-810)ctC>ctT	p.L270L	ACSF2_uc002iqu.2_Silent_p.L245L|ACSF2_uc010wml.1_Silent_p.L202L|ACSF2_uc010wmn.1_Silent_p.L232L|ACSF2_uc010wmo.1_Silent_p.L85L	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	245					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGACCAGCTCCAATACAACC	0.602000														51			13		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754449	49754449	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:49754449C>T	uc003ozu.3	-	0	605	c.452G>A	c.(451-453)cGa>cAa	p.R151Q		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	151					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGTGATGCTCGGAAGGCTTC	0.498000														59			18		0	0	1	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27503057	27503057	+	Missense_Mutation	SNP	G	A	A	rs151006541	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:27503057G>A	uc002rjl.1	+	5	962	c.544G>A	c.(544-546)Gag>Aag	p.E182K	TRIM54_uc002rjn.3_5'Flank|TRIM54_uc002rjo.3_5'Flank|DNAJC5G_uc010yli.1_Silent_p.A94A|DNAJC5G_uc002rjm.1_Missense_Mutation_p.E182K	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	182					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E182K(2)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTAGAAGCGAGGAAAATAG	0.338000											OREG0014517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			32		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220337674	220337674	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:220337674C>T	uc010fwg.3	+	15	4003	c.4003C>T	c.(4003-4005)Ctg>Ttg	p.L1335L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1335	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGGACGGCACTGGTCACAGG	0.657000														50			19		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571761	19571761	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:19571761C>T	uc003jgd.3	-	7	1714	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	CDH18_uc011cnm.2_Missense_Mutation_p.E394K|CDH18_uc003jgc.3_Missense_Mutation_p.E394K|CDH18_uc021xwu.1_Missense_Mutation_p.E394K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	394	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y393Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTGGCATTTTCGTAGACTTCC	0.433000														55			15		0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582669	228582669	+	Missense_Mutation	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:228582669A>C	uc001hss.3	-	5	1399	c.1144T>G	c.(1144-1146)Ttc>Gtc	p.F382V	TRIM11_uc010pvx.2_Missense_Mutation_p.F381V	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	382	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CTCCCCAGGAAGACCAGGATC	0.637000														79			18		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015026	53015026	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:53015026C>T	uc002pzp.4	+	5	1636	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACAGAGTTTTCAGTCAGAAAT	0.393000														30			15		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103363592	103363592	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:103363592G>A	uc022ajr.1	-	7	960	c.800C>T	c.(799-801)tCc>tTc	p.S267F	RELN_uc022ajq.1_Missense_Mutation_p.S267F|RELN_uc010liz.3_Missense_Mutation_p.S267F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	267					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTACCAATGGAAAATTGGAG	0.333000														27			8		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251629	24251629	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:24251629G>A	uc003xdz.2	+	3	552	c.332G>A	c.(331-333)gGa>gAa	p.G111E	ADAMDEC1_uc010lub.2_Missense_Mutation_p.G32E|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G32E	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	111					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCACCCAGAGGAGAGGAAATT	0.453000														60			12		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616352	22616352	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:22616352C>T	uc010ajk.2	+	1	179	c.93C>T	c.(91-93)atC>atT	p.I31I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		TTCTAAGCATCCAAGAGGGAG	0.512000														35			10		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623122	80623122	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:80623122G>A	uc001szd.3	+	6	554	c.548G>A	c.(547-549)cGa>cAa	p.R183Q		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAGGAAATTCGAATTTATGGT	0.353000														44			6		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50713684	50713684	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:50713684C>T	uc010enu.1	+	1	109	c.62C>T	c.(61-63)cCc>cTc	p.P21L	MYH14_uc002prq.1_Missense_Mutation_p.P21L|MYH14_uc002prr.1_Missense_Mutation_p.P21L	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	21	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCCAGTGCCCGAGGCGGCC	0.756000														8			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011596	21011596	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:21011596C>T	uc010vbe.2	-	42	6371	c.6371G>A	c.(6370-6372)cGg>cAg	p.R2124Q		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2124	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGGCCCTTCCGTCGTCGATC	0.512000														67			21		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30380610	30380610	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:30380610C>T	uc002wwp.1	+	12	2184	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	TPX2_uc010gdv.1_Nonsense_Mutation_p.R532*	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	496					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.R496*(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAACAGAATTCGAATGCCCAC	0.418000														87			16		0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99358187	99358187	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:99358187C>T	uc003htw.4	+	13	1857	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	RAP1GDS1_uc003htx.4_Missense_Mutation_p.S555F|RAP1GDS1_uc003htv.4_Missense_Mutation_p.S555F|RAP1GDS1_uc003htz.4_Missense_Mutation_p.S506F|RAP1GDS1_uc003hty.4_Missense_Mutation_p.S507F|RAP1GDS1_uc003hua.4_Missense_Mutation_p.S464F	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	555							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AAATATAATTCCATGGTCCTG	0.343000			T	NUP98	T-ALL									19			7		0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57682846	57682846	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:57682846C>A	uc002ixn.2	+	16	2158	c.2011C>A	c.(2011-2013)Cat>Aat	p.H671N	DHX40_uc010woe.2_Missense_Mutation_p.H594N|DHX40_uc010wof.2_Missense_Mutation_p.H186N	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	671							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATCATTTTTCATGAGGTATT	0.363000														37			10		0.000673444	0.000678522	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154042844	154042844	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:154042844C>T	uc001fdw.3	-	16	2531	c.2459G>A	c.(2458-2460)tGg>tAg	p.W820*	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Nonsense_Mutation_p.W820*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	820						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGAGGATTTCCATTCTAGCAT	0.408000														44			20		0	0	1	0	0
C19orf29	58509	broad.mit.edu	37	19	3623981	3623981	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:3623981G>A	uc002lyh.3	-	1	400	c.347C>T	c.(346-348)tCc>tTc	p.S116F	C19orf29_uc010dtn.3_5'Flank|C19orf29_uc002lyi.4_Missense_Mutation_p.S116F|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	116						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGAGCTGGATGCTGAGGA	0.726000														20			8		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636052	7636052	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:7636052C>T	uc001qsz.3	-	11	3127	c.2999G>A	c.(2998-3000)gGg>gAg	p.G1000E	CD163_uc001qta.3_Missense_Mutation_p.G1000E|CD163_uc009zfw.2_Missense_Mutation_p.G1033E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1000	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGACTCATTCCCTTTGCACTT	0.512000														33			8		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52442570	52442571	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:52442570_52442571GG>AA	uc003ddx.3	-	3	289_290	c.174_175CC>TT	c.(172-177)tcccgg>tcTTgg	p.R59W	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	59					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S58fs*8(2)|p.S58fs*14(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACCTTTCGCCGGGACCGGCGCT	0.500000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								11			5		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183387007	183387007	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:183387007C>T	uc002uos.3	-	1	181	c.97G>A	c.(97-99)Gga>Aga	p.G33R	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.G33R|PDE1A_uc010zfq.1_Missense_Mutation_p.G33R|PDE1A_uc002uov.1_Non-coding_Transcript	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	33	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACTCACATTCCTTTCAGGCGC	0.413000														51			20		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670256	186670256	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:186670256C>T	uc002upl.3	+	16	16490	c.16490C>T	c.(16489-16491)tCa>tTa	p.S5497L	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACCTTCTTTTCATTTCTAAAT	0.388000														68			16		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730589	173730589	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:173730589G>A	uc003isv.3	+	5	1367	c.631G>A	c.(631-633)Gga>Aga	p.G211R		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	211	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAAAAGAGAAGGACTCATCCG	0.512000														52			26		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21862229	21862229	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:21862229G>A	uc001war.2	-	30	5790	c.5725C>T	c.(5725-5727)Cgg>Tgg	p.R1909W	CHD8_uc001was.2_Missense_Mutation_p.R1630W|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1909					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATGCCAGCCGATCTTCCAAA	0.562000														45			12		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179516	59179516	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:59179516G>A	uc002afp.3	-	17	2687	c.2599C>T	c.(2599-2601)Cct>Tct	p.P867S	SLTM_uc002afn.3_Missense_Mutation_p.P409S|SLTM_uc002afo.3_Missense_Mutation_p.P849S|SLTM_uc002afq.3_Missense_Mutation_p.P436S|SLTM_uc010bgd.3_Missense_Mutation_p.P436S	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	867	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGATGTCTAGGATGAGTGATA	0.502000														72			20		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267052	124267052	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:124267052G>A	uc010saj.2	-	0	196	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGAAGGAGAGATTGAAGAGG	0.393000														60			10		0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33048118	33048118	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:33048118C>T	uc003zsf.1	-	10	1537	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	SMU1_uc011lnu.1_Missense_Mutation_p.E316K	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	477						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AAAGTTCTCTCCAGTTTGCCA	0.443000														31			8		0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24734549	24734549	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:24734549C>T	uc004dbl.3	+	6	593	c.578C>T	c.(577-579)cCt>cTt	p.P193L	POLA1_uc004dbm.3_Missense_Mutation_p.P199L	NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	193					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TCACCGAATCCTTTCTCTGTG	0.388000														5			9		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169840473	169840473	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:169840473G>A	uc003fgl.2	-	8	1882	c.1848C>T	c.(1846-1848)gtC>gtT	p.V616V	PHC3_uc010hws.1_Silent_p.V604V|PHC3_uc011bpq.1_Silent_p.V563V	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	604	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TATCCATCCGGACACATTCAT	0.438000														36			15		0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167991	76167991	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:76167991G>A	uc002jut.3	+	2	765	c.738G>A	c.(736-738)agG>agA	p.R246R	SYNGR2_uc002juu.1_Missense_Mutation_p.G217S			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GACCACCGAGGGCTACCAGCC	0.652000														86			5		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43905788	43905788	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:43905788C>T	uc002zbg.3	-	4	597	c.492G>A	c.(490-492)ttG>ttA	p.L164L		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	164					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CATTTTTGTTCAAGAACTTGC	0.502000														64			11		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703584	55703584	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:55703584C>T	uc010ris.2	-	0	293	c.293G>A	c.(292-294)gGg>gAg	p.G98E		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G98V(2)|p.G98G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAGGGCACACCCATAATAGGA	0.423000														27			7		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991317	28991317	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:28991317G>A	uc002kwr.2	+	13	2453	c.2318G>A	c.(2317-2319)gGg>gAg	p.G773E	DSG4_uc002kwq.2_Missense_Mutation_p.G754E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	754					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ggagcctcaggggccgcaAGG	0.622000														48			9		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771432	143771432	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:143771432G>A	uc011ktx.2	+	0	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCTGTTGGGGAACGGGACAA	0.542000														61			18		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026119	176026119	+	Silent	SNP	T	C	C	rs142779818	by1000genomes	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:176026119T>C	uc003meo.1	-	1	892	c.717A>G	c.(715-717)agA>agG	p.R239R	GPRIN1_uc021yif.1_Silent_p.R239R	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	239						growth cone|plasma membrane		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCACCTTTCTCAAAGACC	0.488000														112			31		0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1394941	1394941	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:1394941C>T	uc003mtm.3	+	1	1296	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	394					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TGGGACTGCCCCGTTACCAGC	0.443000														78			45		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279175	74279175	+	Silent	SNP	G	A	A	rs143665140		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:74279175G>A	uc003hgs.4	+	7	955	c.882G>A	c.(880-882)tcG>tcA	p.S294S	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Silent_p.S102S|ALB_uc011cbf.2_Silent_p.S184S	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	294	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.S294L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATCAAGATTCGATCTCCAGTA	0.418000														53			27		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086793	144086793	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:144086793C>T	uc010khi.3	+	5	1289	c.1090C>T	c.(1090-1092)Cca>Tca	p.P364S	PHACTR2_uc003qjq.4_Missense_Mutation_p.P353S|PHACTR2_uc010khh.3_Missense_Mutation_p.P273S|PHACTR2_uc003qjr.4_Missense_Mutation_p.P284S	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	353							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTCAGACACTCCAGTTGTCCT	0.577000														40			17		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243801	43243801	+	Missense_Mutation	SNP	C	T	T	rs148232674	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:43243801C>T	uc002lbe.3	+	10	2219	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	SLC14A2_uc010dnj.3_Missense_Mutation_p.S468L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	468						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGAGGGCTCGGAGGCTGTG	0.602000														39			6		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623892	25623892	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:25623892G>A	uc003abp.1	+	3	294	c.246G>A	c.(244-246)tgG>tgA	p.W82*		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	82	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACCCCCGCTGGGACTCATGGA	0.612000														65			24		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87755799	87755799	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:87755799C>T	uc003ydx.3	-	0	105	c.57G>A	c.(55-57)gaG>gaA	p.E19E		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	19					signal transduction|visual perception	integral to membrane	cGMP binding			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						TTTGTTCATTCTCATTGTTCT	0.433000														48			35		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860911	16860911	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:16860911G>A	uc002neu.4	+	5	1880	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	NWD1_uc002net.4_Silent_p.P351P|NWD1_uc002nev.4_Silent_p.P280P|NWD1_uc021uqg.1_Silent_p.P351P	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	486	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGGACCCGGAGGCCTACT	0.647000														73			17		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486466	36486466	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:36486466C>T	uc002hpz.3	-	10	3007	c.2986G>A	c.(2986-2988)Gag>Aag	p.E996K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	996						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGCGTTCTCCCAGGGGCAG	0.637000														64			18		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20101726	20101726	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:20101726G>A	uc010rdm.2	+	26	5825	c.5464G>A	c.(5464-5466)Gac>Aac	p.D1822N	NAV2_uc001mpp.3_Missense_Mutation_p.D1702N|NAV2_uc001mpr.4_Missense_Mutation_p.D1766N|NAV2_uc021qew.1_Missense_Mutation_p.D1766N|NAV2_uc001mpt.2_Missense_Mutation_p.D815N|NAV2_uc009yhx.3_Missense_Mutation_p.D830N|NAV2_uc009yhy.1_Missense_Mutation_p.D728N|NAV2_uc009yhz.3_Missense_Mutation_p.D411N|NAV2_uc001mpu.3_Missense_Mutation_p.D204N	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1822						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATAGAGAGTGACTCAAAGAA	0.582000														28			8		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141315153	141315153	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:141315153C>T	uc011chi.2	-	11	1410	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CLGN_uc003iii.3_Missense_Mutation_p.E398K	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	398					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TGATCATCTTCGAAATAATCT	0.328000														29			9		0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3340514	3340514	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3340514C>T	uc002cuq.3	+	5	2340	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	ZNF263_uc010uww.2_Missense_Mutation_p.R318W|ZNF263_uc002cur.2_Missense_Mutation_p.R318W	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	670					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAGCTTCTCTCGGAGTTCCCG	0.502000														46			13		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48244997	48244997	+	Silent	SNP	G	A	A	rs139456533		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:48244997G>A	uc002eff.1	-	9	1820	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	ABCC11_uc002efg.1_Silent_p.I490I|ABCC11_uc002efh.1_Silent_p.I490I|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	490						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCCCATTGACGATCCCGGGAC	0.577000														55			31		0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68504116	68504116	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:68504116G>A	uc003jvp.3	+	7	668	c.581G>A	c.(580-582)aGg>aAg	p.R194K	CENPH_uc010ixc.3_Missense_Mutation_p.R175K	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	194					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AACTCAGAGAGGATAAAGATC	0.313000														48			19		0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179979887	179979887	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179979887G>A	uc002uni.4	-	15	1894	c.1744C>T	c.(1744-1746)Cga>Tga	p.R582*	SESTD1_uc002unh.4_Nonsense_Mutation_p.R85*	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	582					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGTTCAGTCGAGGAAGTGTA	0.428000														26			4		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67372671	67372671	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:67372671C>T	uc003xwb.4	+	12	1325	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.P383S|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.P361S	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	431					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.P383fs*3(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGCTGATATCCCCGCACTAGT	0.542000														119			28		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2082315	2082315	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:2082315C>T	uc001aiq.3	+	8	935	c.774C>T	c.(772-774)atC>atT	p.I258I	PRKCZ_uc001air.3_Silent_p.I75I|PRKCZ_uc010nyw.2_Silent_p.I154I|PRKCZ_uc001ais.3_Silent_p.I75I|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc009vlb.3_Silent_p.I71I	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	258	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TCAGAGTCATCGGGCGCGGGA	0.512000														49			19		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76903071	76903071	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:76903071G>A	uc003uga.3	+	9	1361	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	CCDC146_uc010ldp.3_Intron	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	412										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GCTTCACAAGGAAGTTGAAGT	0.353000														107			18		0	0	1	0	0
LOC401242	401242	broad.mit.edu	37	6	28829564	28829564	+	RNA	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:28829564C>T	uc003nlq.2	-	1		c.623G>A								Homo sapiens uncharacterized LOC401242 (LOC401242), non-coding RNA.																		CATCCTCTTCCCCAGAAAGCC	0.542000														5			4		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122227	42122227	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:42122227C>A	uc003gwn.3	-	4	1811	c.1231G>T	c.(1231-1233)Ggg>Tgg	p.G411W	BEND4_uc003gwm.3_Missense_Mutation_p.G411W|BEND4_uc011byy.1_Missense_Mutation_p.G411W	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	411	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGCCGTCTCCCATCTTTCTTT	0.453000														53			16		2.23348e-06	2.26527e-06	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117314613	117314613	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:117314613G>A	uc001prh.1	-	20	4033	c.4031C>T	c.(4030-4032)cCt>cTt	p.P1344L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1284	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGCCAGCAGGCTCGATGGT	0.622000														53			18		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33686930	33686930	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:33686930G>A	uc001uuw.3	-	8	2546	c.2420C>T	c.(2419-2421)cCc>cTc	p.P807L	STARD13_uc001uuu.3_Missense_Mutation_p.P799L|STARD13_uc001uuv.3_Missense_Mutation_p.P689L|STARD13_uc001uux.3_Missense_Mutation_p.P772L	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	807	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.T806M(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CAGGTTCATGGGCGTCATCTG	0.498000														107			48		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084982	53084982	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:53084982C>T	uc003xqz.2	-	4	595	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E112K|ST18_uc011lds.1_Missense_Mutation_p.E52K|ST18_uc003xra.2_Missense_Mutation_p.E147K|ST18_uc003xrb.2_Missense_Mutation_p.E147K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E147K(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAATTTTCACTTACAGTC	0.378000														55			30		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357361	13357361	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:13357361G>A	uc003wwm.2	-	1	664	c.220C>T	c.(220-222)Cct>Tct	p.P74S	DLC1_uc003wwn.3_Missense_Mutation_p.P74S|DLC1_uc011kxy.2_Missense_Mutation_p.P74S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	74					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGCCTCCCAGGAAAATCTCTC	0.458000														277			62		0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14067018	14067018	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:14067018C>T	uc002mxt.3	+	4	563	c.557C>T	c.(556-558)gCc>gTc	p.A186V	PODNL1_uc010xnj.2_5'Flank|PODNL1_uc002mxs.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	186										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						AGCACCGTGGCCGTGCCACCG	0.682000														18			10		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355594	34355594	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:34355594G>A	uc001zhk.1	+	2	1346	c.676G>A	c.(676-678)Gac>Aac	p.D226N	CHRM5_uc001zhl.1_Missense_Mutation_p.D226N|CHRM5_uc021sir.1_Missense_Mutation_p.D226N	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	226					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GCGAACCAAGGACCTGGCTGA	0.527000														128			33		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767499	12767499	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:12767499G>A	uc002mub.2	-	12	1606	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F	MAN2B1_uc010dyv.1_Silent_p.F509F	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	510					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGATGACCTGGAACTGGGGAG	0.587000														96			18		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57584636	57584636	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:57584636G>A	uc001snd.3	+	42	7546	c.7080G>A	c.(7078-7080)cgG>cgA	p.R2360R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2360					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCATCATGCGGGCGGCGCTCT	0.582000														24			5		0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37814036	37814036	+	Silent	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:37814036C>A	uc002hsd.3	+	3	509	c.306C>A	c.(304-306)gcC>gcA	p.A102A	STARD3_uc010weg.2_Silent_p.A102A|STARD3_uc010wei.2_Silent_p.A102A|STARD3_uc002hse.3_Silent_p.A102A|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	102	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGGTCCTGGCCTTCTTCCGCT	0.647000														72			25		2.46105e-21	2.51999e-21	1	1	0
COBRA1	25920	broad.mit.edu	37	9	140161696	140161696	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:140161696C>T	uc004cmm.4	+	9	1446	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	415					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		GCGCAGGTTTCTGCAGGAGCA	0.701000														27			11		0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25599758	25599758	+	Missense_Mutation	SNP	C	T	T	rs141617094		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:25599758C>T	uc003abo.1	+	3	295	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_004076	NP_004067	P26998	CRBB3_HUMAN	Homo sapiens crystallin, beta B3 (CRYBB3), mRNA.	75	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens	p.R75H(1)		large_intestine(2)|lung(2)|prostate(1)	5						CAGGGCCTTCCGCGGGGAGCA	0.572000														137			18		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18047225	18047225	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:18047225C>T	uc001mnp.2	-	6	853	c.827G>A	c.(826-828)gGt>gAt	p.G276D	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	276					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CGGGACATGACCTAAGAGTTC	0.438000														78			28		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169711862	169711862	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:169711862G>A	uc002ueg.3	+	11	1122	c.856_splice	c.e11-1	p.E286_splice	NOSTRIN_uc002uef.3_Splice_Site_p.E343_splice|NOSTRIN_uc002ueh.3_Splice_Site_p.E208_splice|NOSTRIN_uc010fpu.3_Splice_Site_p.E258_splice|NOSTRIN_uc002uek.3_5'Flank	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	286					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTTCCTAAAGGAAGAAGATCC	0.368000														30			8		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123974	99123974	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:99123974G>A	uc003uqv.3	+	5	1435	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	ZKSCAN5_uc010lfx.3_Silent_p.K437K|ZKSCAN5_uc003uqw.3_Silent_p.K437K|ZKSCAN5_uc003uqx.3_Silent_p.K364K|ZKSCAN5_uc003uqy.3_Silent_p.K173K	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	437					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGTGTGGGAAGAACTTCGGTC	0.537000														189			69		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021425	132021425	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:132021425G>A	uc002tsn.2	+	14	2449	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.E399E|POTEE_uc002tsl.2_Silent_p.E381E|POTEE_uc010fmy.1_Silent_p.E263E	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	799	Actin-like.						ATP binding										TGGCTCCCGAGGAGCACCCCA	0.582000														184			27		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224001	43224001	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:43224001C>T	uc002lbe.3	+	9	2043	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC14A2_uc002lbb.3_Silent_p.F409F|SLC14A2_uc010dnj.3_Silent_p.F409F	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	409						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCATCTTCCTGCTCCTGA	0.542000														160			30		0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41355729	41355729	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:41355729C>T	uc002opl.4	-	1	358	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	CYP2A6_uc010ehe.1_Intron|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	113					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TCACCATAGCCTTTGAAGACC	0.627000														58			17		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745406	135745406	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:135745406C>T	uc002tue.1	-	6	1067	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E233K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.E74K|YSK4_uc002tui.4_Missense_Mutation_p.E363K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	346							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATCCTCTTCCCTAACTGCA	0.363000														21			5		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197021902	197021902	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:197021902C>T	uc001gtt.1	-	8	1461	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	473	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACTTTCCCTTCATATTTCCAC	0.318000														22			8		0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85121526	85121526	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:85121526G>A	uc001dki.3	-	11	1704	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L	SSX2IP_uc001dkf.3_Silent_p.L432L|SSX2IP_uc001dkh.3_Silent_p.L460L|SSX2IP_uc010orz.2_Silent_p.L433L|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Silent_p.L433L|SSX2IP_uc001dkj.3_Silent_p.L460L|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Silent_p.L456L	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	460					cell adhesion	nucleus|protein complex		p.R459C(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCCAATCCCAGGCGAATAGCG	0.418000														21			8		0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11810168	11810169	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:11810168_11810169CC>TT	uc001asv.3	+	4	523_524	c.399_400CC>TT	c.(397-402)taccag>taTTag	p.Q134*	AGTRAP_uc001asu.3_3'UTR|AGTRAP_uc001ast.3_3'UTR|AGTRAP_uc001asw.3_Nonsense_Mutation_p.Q127*|AGTRAP_uc001asx.3_3'UTR	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	Homo sapiens angiotensin II receptor-associated protein (AGTRAP), transcript variant 1, mRNA.	134						Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	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;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGTGCCTACCAGACGATTGA	0.579000														28			6		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629532	118629532	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:118629532G>A	uc001ehk.2	-	10	1527	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	487						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAGGGCAGAAGGGACACAATG	0.507000														84			33		0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866236	40866236	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:40866236C>T	uc001zmd.1	+	2	1414	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	RPUSD2_uc021sjh.1_Missense_Mutation_p.P411S	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	472					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGAGGCAGCCCCTCAGGAGTT	0.557000														65			9		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287544	46287544	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:46287544C>T	uc001van.1	+	2	464	c.384C>T	c.(382-384)ttC>ttT	p.F128F	SPERT_uc001vao.2_Silent_p.F92F	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	128						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACGAGATGTTCGTGTTCCAGG	0.632000														86			7		0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82921388	82921388	+	Missense_Mutation	SNP	G	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:82921388G>T	uc010rsv.1	+	3	799	c.377G>T	c.(376-378)gGa>gTa	p.G126V	ANKRD42_uc009yvi.2_Missense_Mutation_p.G126V|ANKRD42_uc001ozz.1_Missense_Mutation_p.G98V|ANKRD42_uc001paa.3_Missense_Mutation_p.G126V|ANKRD42_uc001pab.1_Missense_Mutation_p.G126V			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	98										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GATGACCGGGGATGCACTCCT	0.393000														74			17		0.00741294	0.0074618	1	1	0
LRP1	4035	broad.mit.edu	37	12	57574529	57574530	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:57574529_57574530CC>TT	uc001snd.3	+	32	5932_5933	c.5466_5467CC>TT	c.(5464-5469)gtcctt>gtTTtt	p.L1823F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1823					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTCCGTGGTCCTTCGGAACAG	0.649000														85			14		0	0	1	0	0
GSK3A	2931	broad.mit.edu	37	19	42740826	42740826	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:42740826C>T	uc002otb.1	-	3	717	c.598G>A	c.(598-600)Gag>Aag	p.E200K	GSK3A_uc002ota.1_Missense_Mutation_p.E118K	NM_019884	NP_063937	P49840	GSK3A_HUMAN	Homo sapiens glycogen synthase kinase 3 alpha (GSK3A), mRNA.	200	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TACACTGTCTCGGGCACATAT	0.572000														82			22		0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20979121	20979121	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:20979121G>A	uc001vxp.2	+	1	979	c.575G>A	c.(574-576)gGa>gAa	p.G192E	RNASE10_uc010tlj.2_Missense_Mutation_p.G164E	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	164						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.G164E(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTCAAGGGGGGAAAATGTCAC	0.458000														41			13		0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207510105	207510105	+	Silent	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:207510105A>G	uc001hfq.4	+	6	1215	c.921A>G	c.(919-921)acA>acG	p.T307T	CD55_uc001hfr.4_Silent_p.T307T|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Silent_p.T243T|CD55_uc009xce.3_Silent_p.T307T	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	307	Ser/Thr-rich.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TTCCAACTACAGAAGTCTCAC	0.413000														46			15		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566869	4566869	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:4566869C>T	uc010qyf.2	+	0	449	c.449C>T	c.(448-450)tCt>tTt	p.S150F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTTGTTTCTCTCCTCCGG	0.527000														59			22		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93834497	93834497	+	Silent	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:93834497A>G	uc001pep.2	+	13	2728	c.2571A>G	c.(2569-2571)aaA>aaG	p.K857K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	857	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCATGACAAAACCAGGTAAGT	0.453000														42			12		0	0	1	0	0
LOC728819	728819	broad.mit.edu	37	2	43902572	43902573	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:43902572_43902573CC>TT	uc010fav.1	-	0	889_890	c.889_890GG>AA	c.(889-891)gga>AAa	p.G297K	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAAATAGTGTCCAAATGCCCTG	0.455000														18			4		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363360	22363360	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:22363360G>A	uc002nqs.1	-	2	1477	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H387H(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTTCAGCATGAATTGCCTTA	0.393000														46			12		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347743	38347743	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:38347743C>T	uc003cib.2	+	0	299	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	SLC22A14_uc010hhc.1_Missense_Mutation_p.P76S|SLC22A14_uc003cia.2_Missense_Mutation_p.P76S|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	76						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CACCTTTATCCCCAGCATCAT	0.562000														68			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091108	9091108	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9091108G>A	uc002mkp.3	-	0	911	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	236	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAAGGAAGGAAGAATAAAG	0.463000														43			18		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862745	84862745	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:84862745C>G	uc010kbp.3	-	22	3245	c.3148G>C	c.(3148-3150)Gac>Cac	p.D1050H	KIAA1009_uc003pkj.4_Missense_Mutation_p.D974H|KIAA1009_uc003pki.4_Missense_Mutation_p.D436H	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1050					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAAGAACGTCTATTTCGGCT	0.393000														9			9		0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38874842	38874842	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:38874842C>T	uc003xmr.3	+	5	593	c.515C>T	c.(514-516)cCt>cTt	p.P172L	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	172					PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TACAAAGAGCCTCTGAAATGT	0.428000														42			22		0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671701	112671701	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:112671701G>A	uc003pvx.1	+	2	1103	c.791G>A	c.(790-792)tGa>tAa	p.*264*	RFPL4B_uc021zdy.1_Splice_Site_p.*264_splice	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	0							zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		ATCTGCCCATGAGAAAGTCAG	0.463000														20			13		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579170	52579170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:52579170G>A	uc001rzw.3	-	0	364	c.313C>T	c.(313-315)Cga>Tga	p.R105*	KRT80_uc001rzy.3_Nonsense_Mutation_p.R168*|KRT80_uc001rzx.3_Nonsense_Mutation_p.R168*	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	256	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TACCTGATTCGAAACTCCTCA	0.592000														59			23		0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48790109	48790109	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:48790109C>T	uc002pil.1	+	5	1725	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y	ZNF114_uc010elv.1_Missense_Mutation_p.H410Y|ZNF114_uc002pim.1_Missense_Mutation_p.H410Y|ZNF114_uc002pin.2_Missense_Mutation_p.H376Y	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TCTTAAGACTCACAAAGATGA	0.383000														40			18		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14620489	14620489	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:14620489C>T	uc003ssz.3	-	17	1797	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	DGKB_uc011jxt.2_Missense_Mutation_p.G518E|DGKB_uc003sta.3_Missense_Mutation_p.G537E|DGKB_uc011jxu.2_Missense_Mutation_p.G536E	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	537	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.G536R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGCTTTACCTCCTCCCCATCG	0.433000														32			3		0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161198754	161198754	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:161198754G>A	uc001fzd.3	+	9	1025	c.796G>A	c.(796-798)Gat>Aat	p.D266N	TOMM40L_uc010pkl.1_Missense_Mutation_p.D232N|TOMM40L_uc009wue.3_Missense_Mutation_p.D148N|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.D266N	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	266					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGCTTGGTGGATAGTAACTG	0.522000														76			32		0	0	1	0	0
BC034424	0	broad.mit.edu	37	15	72637726	72637726	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:72637726G>A	uc002aug.3	+	2		c.166_splice	c.e2-1		CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Intron|HEXA_uc002aun.4_Intron|HEXA_uc010bix.3_3'UTR					Homo sapiens hexosaminidase A (alpha polypeptide), mRNA (cDNA clone IMAGE:4823589).																		CTCTCTCTAAGGGGTTCCCCA	0.488000														8			3		0	0	1	0	0
WBSCR22	114049	broad.mit.edu	37	7	73100984	73100984	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:73100984C>T	uc003tyu.3	+	2	163	c.105C>T	c.(103-105)atC>atT	p.I35I	WBSCR22_uc010lbi.1_Non-coding_Transcript|WBSCR22_uc003tyv.3_5'UTR|WBSCR22_uc003tyt.3_Silent_p.I35I|WBSCR22_uc022afv.1_Non-coding_Transcript|WBSCR22_uc003tyw.1_5'UTR	NM_001202560	NP_001189489	O43709	WBS22_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), transcript variant 1, mRNA.	35						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGATTGATATCCAGACCAGGA	0.473000														148			46		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923258	35923258	+	Missense_Mutation	SNP	C	T	T	rs142738122	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:35923258C>T	uc003olm.3	-	16	2014	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.E217K|SLC26A8_uc003oll.3_Missense_Mutation_p.E530K|SLC26A8_uc003oln.3_Missense_Mutation_p.E635K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	635	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAGGATGCTTCGGGATCCAGT	0.478000														53			14		0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60741265	60741265	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:60741265G>A	uc002agp.3	-	9	2136	c.1901C>T	c.(1900-1902)cCt>cTt	p.P634L	NARG2_uc002ago.3_Missense_Mutation_p.P497L|NARG2_uc002agq.4_Missense_Mutation_p.P302L	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	634						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCGTTTGATAGGTTTTTTTAA	0.383000														39			9		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63850979	63850979	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:63850979C>T	uc001jlt.2	+	9	2213	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L	ARID5B_uc001jlu.2_Missense_Mutation_p.P343L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	586					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.P586>?(2)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGAGAGCCCTGAAAGTGAA	0.557000														26			13		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196963300	196963300	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:196963300C>T	uc001gts.4	+	3	649	c.521C>T	c.(520-522)tCc>tTc	p.S174F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	174	Sushi 3.				complement activation, alternative pathway	extracellular region		p.S174Y(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTGAAATTCTCCTGCAGAAAA	0.353000														92			24		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634274	70634274	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:70634274C>T	uc001xly.3	-	1	1620	c.866G>A	c.(865-867)gGg>gAg	p.G289E	SLC8A3_uc001xlw.3_Missense_Mutation_p.G289E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G289E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G289E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	289					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G289R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CATCATTTTCCCATCCATCTC	0.473000														50			14		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644471	37644471	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:37644471G>A	uc002ofo.1	-	4	561	c.330C>T	c.(328-330)atC>atT	p.I110I	ZNF585A_uc002ofm.1_Silent_p.I55I|ZNF585A_uc002ofn.1_Silent_p.I55I	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATAACTGAGGATTTTTCTAC	0.343000														97			29		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17429530	17429530	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:17429530C>T	uc001baf.3	-	2	383	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PADI2_uc010ocm.2_Missense_Mutation_p.E101K|PADI2_uc001bag.1_Missense_Mutation_p.E101K	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	101					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.E100K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ATGCTCCCTTCCTCGTCATAG	0.557000														12			6		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254006	158254006	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:158254006G>A	uc003ipm.4	+	6	1377	c.918G>A	c.(916-918)gtG>gtA	p.V306V	GRIA2_uc011cit.2_Silent_p.V259V|GRIA2_uc003ipl.4_Silent_p.V306V|GRIA2_uc003ipk.4_Silent_p.V259V|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	306					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCGTTCAAGTGATGACTGAAG	0.493000														91			30		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39913974	39913974	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:39913974G>A	uc002hxq.2	-	10	2113	c.1836C>T	c.(1834-1836)gcC>gcT	p.A612A	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.A612A|JUP_uc002hxs.2_Silent_p.A612A	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	612					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCTTGTCCTGGGCCAGCTCAC	0.677000														25			6		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886872	25886872	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:25886872G>A	uc001isj.3	+	10	2377	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	GPR158_uc001isk.3_Missense_Mutation_p.D148N	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	773						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E772K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTCTAAAGAGGACAAGGAGGG	0.572000														58			17		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024426	147024426	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:147024426T>G	uc010jgo.1	-	4	1218	c.1070A>C	c.(1069-1071)gAa>gCa	p.E357A	JAKMIP2_uc003loq.1_Missense_Mutation_p.E357A|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E315A|JAKMIP2_uc003lor.1_Missense_Mutation_p.E357A|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	357						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGAATTTTCCTTGGTAAC	0.408000														71			18		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72340914	72340914	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:72340914G>A	uc002jkm.4	+	6	735	c.597G>A	c.(595-597)ctG>ctA	p.L199L	KIF19_uc002jkj.2_Silent_p.L199L|KIF19_uc002jkk.2_Silent_p.L157L|KIF19_uc002jkl.2_Silent_p.L157L	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	199	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGCAGCTGCTGATGAAGGGGA	0.687000														58			29		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55565910	55565910	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:55565910C>T	uc010igr.3	+	3	821	c.734C>T	c.(733-735)aCg>aTg	p.T245M	KIT_uc010igs.3_Missense_Mutation_p.T245M	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	245	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTACTCAACGTGGAAAAGA	0.428000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					52			19		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886060	29886060	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:29886060G>A	uc003afo.3	+	3	2502	c.2431G>A	c.(2431-2433)Gag>Aag	p.E811K	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	817	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		E -> A (in dbSNP:rs165602).		cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAGGCCCCTGAGAAGGAGAT	0.542000														18			9		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827472	1827472	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:1827472G>A	uc002lua.4	-	1	1411	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L	REXO1_uc010dsr.1_Missense_Mutation_p.S393L	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	439						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGTGGCCGAAGATGGCTT	0.731000														30			7		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4540018	4540018	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:4540018G>A	uc002mau.3	-	0	19	c.8C>T	c.(7-9)tCt>tTt	p.S3F	PLIN5_uc002mat.1_5'UTR	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	3						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTCCAAGAGGACATGGT	0.577000														291			56		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823710	47823710	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:47823710C>T	uc002pgj.1	+	1	725	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	226					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CACTTTCATCCTGCTCCGGAC	0.612000														106			38		0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55741984	55741984	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:55741984G>A	uc002qjv.3	-	21	2908	c.2825C>T	c.(2824-2826)tCc>tTc	p.S942F	TMEM86B_uc002qjt.3_5'Flank|TMEM86B_uc002qju.3_5'Flank|PPP6R1_uc002qjw.4_Missense_Mutation_p.S880F	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	880					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CACTCACTGGGAGCCTGGGGA	0.657000														24			3		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310394	124310394	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:124310394C>G	uc010sal.2	-	0	588	c.588G>C	c.(586-588)gaG>gaC	p.E196D		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACACTACAAGCTCATTCACAT	0.458000														61			14		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198534	20198534	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:20198534C>T	uc003sus.4	-	4	1759	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	MACC1_uc010kug.3_Missense_Mutation_p.D484N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	484					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACACAAAAATCAAACAAGTGC	0.388000														47			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424738	179424738	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179424738C>T	uc021vsy.1	-	274	78642	c.78417G>A	c.(78415-78417)ggG>ggA	p.G26139G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G19834G|TTN_uc021vta.1_Silent_p.G19767G|TTN_uc021vtb.1_Silent_p.G19642G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27066	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V26138L(1)		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)			TATATTCTGTCCCTCGTAAGC	0.428000														35			17		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734809	176734809	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:176734809C>T	uc001gkz.3	+	14	5323	c.4159C>T	c.(4159-4161)Cat>Tat	p.H1387Y	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1387					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCTGTATCCATCGGCCCTG	0.507000														87			28		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29933544	29933544	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:29933544G>A	uc001usl.4	+	5	3139	c.3081G>A	c.(3079-3081)ggG>ggA	p.G1027G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1017	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGCGCAAGGGGAGCTGAAGA	0.637000														18			4		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122296618	122296618	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:122296618G>A	uc001ubj.3	-	2	44	c.4_splice	c.e2-1	p.T2_splice	HPD_uc001ubk.3_Splice_Site	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	2					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ACTGTAAGTCGTCTAAGGAGA	0.527000														44			17		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26816316	26816316	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:26816316C>T	uc010wan.2	+	1	254	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Missense_Mutation_p.P19S|SLC13A2_uc002hbh.3_Missense_Mutation_p.P63S|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	63						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGCCCTCTTCCCCTTAATCCT	0.622000														46			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062543	9062543	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9062543G>A	uc002mkp.3	-	2	25107	c.24903C>T	c.(24901-24903)aaC>aaT	p.N8301N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8303	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGCCAGGGTTGAGAAGAG	0.517000														48			14		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11206986	11206986	+	Silent	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:11206986A>T	uc004cup.1	-	3	1812	c.939T>A	c.(937-939)gcT>gcA	p.A313A	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.A313A|ARHGAP6_uc004cum.1_Silent_p.A110A|ARHGAP6_uc004cun.1_Silent_p.A133A|ARHGAP6_uc010neb.1_Silent_p.A135A|ARHGAP6_uc011mif.1_Silent_p.A110A	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	313					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGAGGAGGGAAGCCACAAAGT	0.463000														24			19		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	957730	957730	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:957730G>A	uc001ack.2	+	1	401	c.351G>A	c.(349-351)gtG>gtA	p.V117V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	117	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TCTTCTTTGTGAACCCTGCAC	0.602000														127			37		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524457	112524457	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:112524457A>T	uc001ebu.1	-	1	1372	c.892T>A	c.(892-894)Ttc>Atc	p.F298I	KCND3_uc001ebv.1_Missense_Mutation_p.F298I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	298						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GAAAACTTGAAGATCCTGAAG	0.597000														46			10		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706553	96706553	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:96706553G>A	uc010how.1	+	2	873	c.830G>A	c.(829-831)gGa>gAa	p.G277E	EPHA6_uc003drp.1_Missense_Mutation_p.G277E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	182						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAAGGAAAGGATTTTATCTG	0.458000														204			44		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226991	43226991	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:43226991G>A	uc003ouq.1	+	10	1511	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	411						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AACAAACTCCGGATCAACATC	0.642000														71			5		0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749471	139749472	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139749471_139749472GG>AA	uc004cjs.3	+	9	1156_1157	c.1106_1107GG>AA	c.(1105-1107)cgg>cAA	p.R369Q	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	369	MAM 2.				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)		ggcgccccccgggcccccgTCC	0.673000														32			5		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7034542	7034542	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:7034542G>A	uc002knm.3	-	13	2081	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LAMA1_uc010wzj.2_Missense_Mutation_p.L139F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	663	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATTGGCAAGGACAGTCATC	0.408000														49			10		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416313	9416313	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:9416313C>A	uc010oae.2	+	1	702	c.363C>A	c.(361-363)gaC>gaA	p.D121E	SPSB1_uc001apv.3_Missense_Mutation_p.D121E	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	121	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CGACGGCAGACGCCCCCCTGC	0.662000														66			17		6.94344e-10	7.06909e-10	1	1	0
ERC2	26059	broad.mit.edu	37	3	55768834	55768834	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:55768834C>T	uc021wzo.1	-	13	2817	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.E889K|ERC2_uc003dht.1_Missense_Mutation_p.E372K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	893						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGGTCTTTTTCCCGCTTGAGG	0.483000														25			6		0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212241644	212241645	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:212241644_212241645CC>TT	uc009xdc.3	+	8	1106_1107	c.792_793CC>TT	c.(790-795)taccca>taTTca	p.P265S	DTL_uc010ptb.2_Missense_Mutation_p.P223S|DTL_uc001hiz.4_Intron	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	265					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CTTTCCTGTACCCAGGTAGCAG	0.347000														55			15		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88226426	88226426	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:88226426G>A	uc003hqo.2	-	6	910	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	HSD17B13_uc010ikk.2_Missense_Mutation_p.R247C	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	283						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTCTGCATACGATTTAAAATC	0.323000														19			7		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105671242	105671242	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:105671242C>T	uc003vdl.4	+	17	2417	c.2309C>T	c.(2308-2310)aCt>aTt	p.T770I	CDHR3_uc003vdk.3_Silent_p.N201N|CDHR3_uc003vdm.4_Missense_Mutation_p.T757I|CDHR3_uc011klt.2_Missense_Mutation_p.T682I|CDHR3_uc003vdn.3_Silent_p.N270N	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	770					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTTAGGAAACTATCCAGATG	0.418000														15			4		0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225140444	225140444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:225140444C>T	uc001how.2	+	1	255	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	DNAH14_uc001hou.4_Nonsense_Mutation_p.Q14*|DNAH14_uc001hot.4_Nonsense_Mutation_p.Q14*|DNAH14_uc001hov.4_Nonsense_Mutation_p.Q14*	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN	Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA.	191					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AACTGAAAATCAAGAGATGGA	0.308000														11			3		0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37829900	37829901	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:37829900_37829901GG>AA	uc002hsj.3	-	5	603_604	c.560_561CC>TT	c.(559-561)acc>aTT	p.T187I	PGAP3_uc010cvy.3_Intron|PGAP3_uc010wej.2_Missense_Mutation_p.T166I|PGAP3_uc002hsk.3_Missense_Mutation_p.T136I|PGAP3_uc010cvz.3_Intron	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	187					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						GCAGCCCCACGGTCCTGCCCCA	0.649000														65			21		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120780940	120780940	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:120780940C>T	uc003vjq.4	+	14	2206	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	C7orf58_uc003vjs.4_Missense_Mutation_p.P587S|C7orf58_uc003vjt.4_Missense_Mutation_p.P367S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	587						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GGAACTAAATCCTGACTTTCA	0.368000														21			6		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251334	19251334	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:19251334G>A	uc001mpm.3	-	9	2082	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Silent_p.S520S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	520					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGATGGCATAGGATGGGCCTG	0.612000														118			25		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691905	18691905	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:18691905G>A	uc001bau.2	+	5	1112	c.729G>A	c.(727-729)acG>acA	p.T243T	IGSF21_uc001bav.2_Silent_p.T64T	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	243						extracellular region		p.T243T(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GACCCTACACGGAGCGCCCCT	0.637000														81			25		0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112302037	112302037	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:112302037C>T	uc001ebs.3	+	2	769	c.412C>T	c.(412-414)Cct>Tct	p.P138S	DDX20_uc010owf.2_Intron|DDX20_uc001ebt.3_5'Flank	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	138	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCTTGGCTCCTACAAGAGA	0.348000														31			6		0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409510	30409510	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:30409510C>T	uc002dya.2	+	1	1315	c.939C>T	c.(937-939)gcC>gcT	p.A313A	ZNF48_uc021tgi.1_Silent_p.A313A|ZNF48_uc021tgj.1_Silent_p.A190A|ZNF48_uc021tgk.1_Silent_p.A313A	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGGAGTTTGCCCGGGGATCCG	0.627000														50			17		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79933186	79933186	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:79933186A>G	uc004akr.3	+	40	5252	c.4992A>G	c.(4990-4992)atA>atG	p.I1664M	VPS13A_uc004akp.4_Missense_Mutation_p.I1664M|VPS13A_uc004akq.4_Missense_Mutation_p.I1664M|VPS13A_uc004aks.3_Missense_Mutation_p.I1625M|VPS13A_uc004akt.3_Missense_Mutation_p.I4M|VPS13A_uc010mpo.1_Missense_Mutation_p.I260M	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1664					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGATTACCATAACTTCAGCAC	0.303000														31			14		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124848330	124848330	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:124848330C>T	uc021rga.1	-	20	2940	c.2823G>A	c.(2821-2823)agG>agA	p.R941R	NCOR2_uc021rgb.1_Silent_p.R924R|NCOR2_uc010tbb.2_Silent_p.R941R|NCOR2_uc010tbc.2_Silent_p.R923R|NCOR2_uc021rgc.1_Silent_p.R923R|NCOR2_uc010tba.2_Silent_p.R941R|NCOR2_uc001ugj.1_Silent_p.R941R	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	941					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGGCTGGGCCTTGGGGACA	0.701000														82			11		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979653	12979653	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:12979653G>A	uc002mvm.3	+	20	2891	c.2763G>A	c.(2761-2763)atG>atA	p.M921I		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	921					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TATCTGTCATGATTCCTGCAG	0.567000														48			9		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284741	223284741	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:223284741C>T	uc021pjl.1	-	0	1633	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	TLR5_uc001hnv.2_Missense_Mutation_p.D545N|TLR5_uc001hnw.2_Missense_Mutation_p.D545N	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	545			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCAGGTAAATCATTGTGAGAA	0.413000														80			28		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18900092	18900092	+	Silent	SNP	G	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:18900092G>C	uc002nke.3	-	4	441	c.405C>G	c.(403-405)ccC>ccG	p.P135P	COMP_uc002nkd.3_Silent_p.P102P|COMP_uc010xqj.2_Intron	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	135	EGF-like 2; calcium-binding (Potential).				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGGGAAGCAGGGGTGGGCGT	0.706000														8			4		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41385271	41385271	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:41385271C>T	uc002xkg.3	-	5	874	c.690G>A	c.(688-690)tgG>tgA	p.W230*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.W230*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	230	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCTGCCATTCCATTGCTGCA	0.577000														10			7		0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38166179	38166179	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:38166179C>A	uc001cbr.3	+	5	516	c.409C>A	c.(409-411)Ctt>Att	p.L137I	CDCA8_uc001cbs.3_Missense_Mutation_p.L137I|CDCA8_uc010oih.1_Missense_Mutation_p.L70I	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	137	Required for interaction with SENP3.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGTAAGAATCTTCAAACTGC	0.403000														67			11		3.07112e-06	3.10892e-06	1	1	0
CFI	3426	broad.mit.edu	37	4	110662171	110662171	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:110662171C>A	uc011cft.2	-	13	1862	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	CFI_uc003hzq.3_Missense_Mutation_p.V341L|CFI_uc003hzr.4_Missense_Mutation_p.V544L	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	544	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCCCAACTCACAACACCCCAG	0.468000														208			64		1.62403e-39	1.66611e-39	1	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227213842	227213842	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:227213842G>A	uc001hqr.3	-	29	5282	c.4339C>T	c.(4339-4341)Cca>Tca	p.P1447S	CDC42BPA_uc001hqq.3_Missense_Mutation_p.P746S|CDC42BPA_uc001hqs.3_Missense_Mutation_p.P1366S|CDC42BPA_uc009xes.3_Missense_Mutation_p.P1419S|CDC42BPA_uc010pvs.2_Missense_Mutation_p.P1427S|CDC42BPA_uc001hqp.3_Missense_Mutation_p.P603S|CDC42BPA_uc001hqt.2_Missense_Mutation_p.P325S|CDC42BPA_uc001hqu.1_Missense_Mutation_p.P654S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1460	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGAGATATGGTGCATTGTAA	0.388000														24			6		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425033	113425033	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:113425033C>T	uc001tuj.3	+	1	508	c.368C>T	c.(367-369)tCc>tTc	p.S123F	OAS2_uc001tuh.3_Missense_Mutation_p.S123F|OAS2_uc001tui.1_Missense_Mutation_p.S123F	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	123	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCCAGAAGTCCCTTGATGGG	0.468000														45			6		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4720287	4720287	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:4720287C>T	uc002fzc.3	+	15	1764	c.1638C>T	c.(1636-1638)gtC>gtT	p.V546V	PLD2_uc010vsj.2_Silent_p.V403V|PLD2_uc002fzd.3_Silent_p.V546V	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	546	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TTGGGGTGGTCGTCCATGGCC	0.632000														62			19		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184761	130184761	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:130184761C>T	uc009zyl.1	-	1	890	c.562G>A	c.(562-564)Gac>Aac	p.D188N		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	188						integral to membrane		p.D188H(2)		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)		AGCCCCAGGTCCCCCTGCAGC	0.706000														27			5		0	0	1	0	0
CASP3	836	broad.mit.edu	37	4	185552963	185552963	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:185552963G>A	uc003iwh.3	-	5	702	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	CASP3_uc003iwg.3_Missense_Mutation_p.R147C|CASP3_uc003iwi.3_Missense_Mutation_p.R147C	NM_004346	NP_116786	P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	147					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CTTCTACAACGATCCCCTCTG	0.363000														47			10		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134478222	134478222	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:134478222G>C	uc003yuk.2	-	5	1247	c.418C>G	c.(418-420)Cgg>Ggg	p.R140G	ST3GAL1_uc003yum.2_Missense_Mutation_p.R140G	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	140					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.R140R(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCGCAGCGCCGGCAGCCCACC	0.572000														53			27		0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90591635	90591635	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:90591635G>A	uc001kfj.4	-	1	538	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	57										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TAAAAGGAAGGAAACGATTCT	0.433000														88			41		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51646001	51646001	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51646001G>A	uc002pvv.1	+	0	444	c.375G>A	c.(373-375)atG>atA	p.M125I	SIGLEC7_uc002pvw.1_Missense_Mutation_p.M125I|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.M125I	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	125					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(1)|p.R124H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCTTTCGTATGGAGAAAGGAA	0.478000														60			25		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862691	84862691	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:84862691C>A	uc010kbp.3	-	22	3299	c.3202G>T	c.(3202-3204)Gat>Tat	p.D1068Y	KIAA1009_uc003pkj.4_Missense_Mutation_p.D992Y|KIAA1009_uc003pki.4_Missense_Mutation_p.D454Y	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1068					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AAATCTTCATCATCTTTATCA	0.368000														17			10		1.61879e-10	1.64966e-10	1	1	0
HRNR	388697	broad.mit.edu	37	1	152188119	152188119	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:152188119G>A	uc001ezt.1	-	2	6062	c.5986C>T	c.(5986-5988)Cgc>Tgc	p.R1996C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1996					keratinization		calcium ion binding|protein binding	p.R1996C(2)|p.S1995Y(1)|p.R1996L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAGCGAGACTCTCGG	0.572000														454			12		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372236	114372236	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:114372236C>T	uc001eds.3	-	17	2358	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	PTPN22_uc021orx.1_Missense_Mutation_p.G715E|PTPN22_uc009wgq.3_Missense_Mutation_p.G688E|PTPN22_uc021ory.1_Missense_Mutation_p.G719E|PTPN22_uc010owo.2_Missense_Mutation_p.G499E|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.G743E|PTPN22_uc009wgs.2_Missense_Mutation_p.G616E	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	743					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACTTTTTCCAGGAGTCTT	0.393000														68			22		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47605499	47605499	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:47605499C>T	uc003gxm.3	-	19	2820	c.2727G>A	c.(2725-2727)cgG>cgA	p.R909R	CORIN_uc011bzf.2_Silent_p.R770R|CORIN_uc011bzg.2_Silent_p.R842R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	909	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.R909R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCAGACAGGCCGGACGTAGC	0.542000														41			14		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19741117	19741117	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19741117G>A	uc002nnd.3	-	20	2685	c.2568C>T	c.(2566-2568)ctC>ctT	p.L856L	LPAR2_uc002nnb.4_5'Flank|LPAR2_uc002nna.4_5'Flank|LPAR2_uc002nnc.4_5'Flank|GMIP_uc010xrb.2_Silent_p.L830L|GMIP_uc010xrc.2_Silent_p.L827L	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	856					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTGTCCCCAGGAGTGAGTCCT	0.612000														57			17		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65113662	65113662	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:65113662C>T	uc001dbo.1	+	8	1287	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N	CACHD1_uc001dbp.1_Silent_p.N149N|CACHD1_uc001dbq.1_Silent_p.N149N	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	445	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCTTCCCAACCGGATGATTG	0.498000														21			7		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113444369	113444370	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:113444369_113444370GG>AA	uc001tuj.3	+	7	1760_1761	c.1620_1621GG>AA	c.(1618-1623)aaggat>aaAAat	p.D541N	OAS2_uc001tui.1_Missense_Mutation_p.D541N	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	541	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAAACTAAAGGATTTAATTCG	0.455000														96			20		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652693	152652693	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:152652693G>A	uc021zhb.1	-	75	13350	c.13127C>T	c.(13126-13128)cCt>cTt	p.P4376L	SYNE1_uc003qot.4_Missense_Mutation_p.P4305L|SYNE1_uc003qou.4_Missense_Mutation_p.P4376L|SYNE1_uc010kiz.3_Missense_Mutation_p.P131L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4376					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATATCTGGAGGAGGGCTCTG	0.522000										HNSCC(10;0.0054)				28			8		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836279	247836279	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:247836279C>T	uc001idi.1	-	0	65	c.65G>A	c.(64-66)gGa>gAa	p.G22E		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGATAATTCCCTGGAGTTC	0.428000														36			11		0	0	1	0	0
C1orf38	9473	broad.mit.edu	37	1	28206198	28206198	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:28206198G>A	uc001bpc.4	+	2	307	c.279G>A	c.(277-279)ctG>ctA	p.L93L	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Silent_p.L93L|C1orf38_uc010ofn.2_Silent_p.L93L|C1orf38_uc010ofo.2_Silent_p.L93L	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	93	CABIT 1.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAAACCCTGGAGGAGCTGG	0.612000														40			9		0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33348757	33348757	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:33348757G>A	uc010cti.1	-	2	466	c.242C>T	c.(241-243)tCg>tTg	p.S81L	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.S75L|RFFL_uc002hin.1_Missense_Mutation_p.S75L|RFFL_uc002hip.2_Missense_Mutation_p.S75L|RFFL_uc002hio.2_Missense_Mutation_p.S75L	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	75					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TACTTGGCTCGAACAGGTCAT	0.498000														55			10		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953277	140953277	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140953277G>A	uc003llb.4	-	15	2281	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S	DIAPH1_uc003llc.4_Missense_Mutation_p.P705S|DIAPH1_uc021yep.1_Missense_Mutation_p.P714S|DIAPH1_uc021yeq.1_Missense_Mutation_p.P705S|DIAPH1_uc010jgc.1_Missense_Mutation_p.P153S	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	714	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAGGTGGCATTCCTGCT	0.622000														7			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249047	140249048	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140249047_140249048AC>TT	uc003lia.2	+	0	1217_1218	c.359_360AC>TT	c.(358-360)aac>aTT	p.N120I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.N120I	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	135	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCATGTGAACGTGGAGGTGA	0.569000														170			62		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4927108	4927109	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:4927108_4927109CC>TT	uc002cyb.3	+	15	3600_3601	c.3261_3262CC>TT	c.(3259-3264)ggccac>ggTTac	p.H1088Y	UBN1_uc010uxw.2_Missense_Mutation_p.H1088Y|UBN1_uc002cyc.3_Missense_Mutation_p.H1088Y	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1088					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGGCCTTGGCCACAGTAAGTG	0.579000														162			44		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575322	4575322	+	Silent	SNP	G	A	A	rs139398595	by1000genomes	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:4575322G>A	uc002fyi.4	-	15	3190	c.2964C>T	c.(2962-2964)ccC>ccT	p.P988P	PELP1_uc010vsf.2_Intron	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	988	Glu-rich.|Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GAGACTCAGGGGGAGGCAGAG	0.622000														3			5		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58543244	58543244	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:58543244G>A	uc002enm.3	+	14	1350	c.1009G>A	c.(1009-1011)Ggc>Agc	p.G337S	NDRG4_uc002enk.3_Missense_Mutation_p.G317S|NDRG4_uc010vif.2_Missense_Mutation_p.G317S|NDRG4_uc002eno.3_Missense_Mutation_p.G285S|NDRG4_uc010cdk.3_Missense_Mutation_p.G303S|NDRG4_uc010vig.2_Missense_Mutation_p.G315S|NDRG4_uc010vih.2_Missense_Mutation_p.G230S|NDRG4_uc010vii.2_Missense_Mutation_p.G303S|NDRG4_uc002enp.3_Missense_Mutation_p.G285S|NDRG4_uc002enq.1_Intron	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	285					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CTTCCTGCAAGGCATGGGCTA	0.582000														45			32		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84371263	84371263	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:84371263G>A	uc021zcf.1	-	3	440	c.410C>T	c.(409-411)tCt>tTt	p.S137F	SNAP91_uc003pka.3_Missense_Mutation_p.S137F|SNAP91_uc011dze.2_Missense_Mutation_p.S137F|SNAP91_uc003pkc.3_Missense_Mutation_p.S137F|SNAP91_uc003pkd.3_Missense_Mutation_p.S137F|SNAP91_uc003pkb.3_Missense_Mutation_p.S102F|SNAP91_uc011dzf.1_Missense_Mutation_p.S18F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	137	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTGTCTGTAAGAAAAAGCCTT	0.333000														22			5		0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11850910	11850910	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:11850910C>T	uc001atb.1	-	10	2065	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	MTHFR_uc001atc.2_Missense_Mutation_p.E600K	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	600					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GACTCCTCCTCATACAGCTTT	0.567000														64			24		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30862850	30862850	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:30862850G>A	uc001rji.1	-	17	4121	c.3370C>T	c.(3370-3372)Ctt>Ttt	p.L1124F	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.L791F|CAPRIN2_uc001rjh.1_Missense_Mutation_p.L1074F|CAPRIN2_uc001rjk.4_3'UTR|CAPRIN2_uc001rjj.1_Missense_Mutation_p.L790F|CAPRIN2_uc001rjl.4_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	1124	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTTGATAAAGAAGATAGCCT	0.393000														50			18		0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209007439	209007439	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:209007439C>T	uc002vcp.4	-	2	484	c.451G>A	c.(451-453)Gag>Aag	p.E151K	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	151	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens	p.E151E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CTCCTGTACTCCCCCGGCCTC	0.507000														89			42		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107869518	107869518	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:107869518A>T	uc022ccg.1	+	35	3387	c.3185A>T	c.(3184-3186)aAa>aTa	p.K1062I	COL4A5_uc004enz.1_Missense_Mutation_p.K1062I|COL4A5_uc004eob.1_Missense_Mutation_p.K670I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1062	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGACAGAAAGGCGACAAA	0.483000									Alport syndrome with Diffuse Leiomyomatosis					37			25		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890662	229890662	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:229890662G>A	uc002vpr.4	-	2	477	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	PID1_uc002vps.4_Missense_Mutation_p.H145Y|PID1_uc002vpt.4_Missense_Mutation_p.H114Y|PID1_uc002vpu.4_Missense_Mutation_p.H65Y	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	147	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGTCGAGATGATGGAGCCAA	0.582000														49			12		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048940	42048940	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:42048940G>A	uc001cgz.4	-	3	2742	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L	HIVEP3_uc001cha.4_Missense_Mutation_p.S510L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	510	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACTGTGGGATGACAGGGGCTC	0.612000														124			26		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915786	186915786	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:186915786C>T	uc001gsc.3	+	10	1256	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	PLA2G4A_uc010pos.2_Missense_Mutation_p.P291S	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	351	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGAATTTAGTCCATACGAAAT	0.328000														35			4		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093636	30093636	+	RNA	SNP	T	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:30093636T>G	uc010dmc.3	+	0		c.2011T>G								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CAGAGGATAATTCTGCTGTGC	0.458000														64			11		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212576880	212576880	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:212576880C>T	uc002veg.1	-	8	1117	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	ERBB4_uc002veh.1_Missense_Mutation_p.G340E|ERBB4_uc010zji.1_Missense_Mutation_p.G340E|ERBB4_uc010zjj.1_Missense_Mutation_p.G340E|ERBB4_uc010fut.1_Missense_Mutation_p.G340E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	340					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATCAATGATCCTGTGCCAAT	0.363000										TSP Lung(8;0.080)				31			11		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875430	27875431	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:27875430_27875431CC>TT	uc021ojw.1	-	0	3196_3197	c.3196_3197GG>AA	c.(3196-3198)ggt>AAt	p.G1066N	AHDC1_uc009vsy.3_Missense_Mutation_p.G1066N|AHDC1_uc009vsz.1_Missense_Mutation_p.G1066N	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1066							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CATGTAGCCACCGGGCGAGACT	0.668000														12			5		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17764938	17764938	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:17764938G>A	uc003ncg.4	-	38	4981	c.4821C>T	c.(4819-4821)gcC>gcT	p.A1607A	KIF13A_uc003ncf.3_Silent_p.A1559A|KIF13A_uc003nch.4_Silent_p.A1572A|KIF13A_uc003nci.4_Silent_p.A1559A|KIF13A_uc003nce.2_Silent_p.A158A	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1607					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGACAGGGTGGCATTGGAGG	0.542000														10			4		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122411235	122411236	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:122411235_122411236CC>TT	uc003efq.4	+	3	502_503	c.443_444CC>TT	c.(442-444)tcc>tTT	p.S148F	PARP14_uc021xdc.1_Missense_Mutation_p.S12F	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	148					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)		GAAAATATTTCCTCTTTGGTGG	0.376000														46			4		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275455	77275455	+	Missense_Mutation	SNP	G	A	A	rs143581712		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:77275455G>A	uc001xsv.3	-	1	709	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCCCTCAAAGGGCCAGATGGA	0.602000														23			7		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815972	82815972	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:82815972G>A	uc003kii.3	+	6	2203	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G616E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	616	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATAATAATGGATCATCCATG	0.413000														92			26		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75983079	75983079	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:75983079G>A	uc002baw.3	-	2	420	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	109	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCACAGTGTGGGGGATGGAGT	0.607000														122			28		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37697981	37697981	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:37697981G>A	uc002ofq.3	-	1	285	c.33C>T	c.(31-33)tcC>tcT	p.S11S	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGGGCTGAGGATTTCTGGG	0.522000														64			16		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46939361	46939362	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:46939361_46939362GG>AA	uc003cqm.3	+	5	533_534	c.330_331GG>AA	c.(328-333)ccggaa>ccAAaa	p.E111K	PTH1R_uc021wxg.1_Missense_Mutation_p.E111K	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	111						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCTGTCTGCCGGAATGGGACCA	0.574000														30			8		0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156743169	156743169	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:156743169C>T	uc003wmy.3	+	0	753	c.738C>T	c.(736-738)ctC>ctT	p.L246L		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	246	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GACAGACACTCCCCGAAAGTG	0.547000														56			11		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2048423	2048423	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:2048423C>T	uc002cof.1	-	13	2540	c.2525G>A	c.(2524-2526)aGc>aAc	p.S842N	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Missense_Mutation_p.S206N	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	842						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGACTTGGTGCTCAGAGGCTT	0.632000														81			31		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192799	179192799	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:179192799C>T	uc003mkm.3	+	1	1051	c.788C>T	c.(787-789)cCc>cTc	p.P263L	MAML1_uc003mkn.1_Missense_Mutation_p.P263L	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	263					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTCGGTGCCCGATGAAGAC	0.542000														57			26		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136511	104136511	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:104136511C>T	uc001kux.2	+	31	4533	c.4239C>T	c.(4237-4239)ctC>ctT	p.L1413L	GBF1_uc001kuy.2_Silent_p.L1413L|GBF1_uc001kuz.2_Silent_p.L1414L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1413					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACTTTGAGCTCTGCGTCAAGA	0.547000														31			20		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13615286	13615286	+	Splice_Site	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:13615286C>T	uc003gmz.1	-	5	1292	c.1175_splice	c.e5-1	p.D392_splice	BOD1L1_uc010idr.1_Splice_Site|BOD1L1_uc010ids.1_Splice_Site	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	392	Lys-rich.						DNA binding										AAAGAGAAATCTTCAAGCGGA	0.313000														11			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107131453	107131453	+	RNA	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:107131453A>G	uc021ser.1	-	77		c.3537T>C								Parts of antibodies, mostly variable regions.																		AATAGCAACAAGGAAAACCCA	0.473000														97			6		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51464835	51464835	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:51464835C>T	uc001jio.3	-	6	1747	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	541	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATCCACCGTTCCTTCTCTTCC	0.572000														54			17		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102898250	102898250	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:102898250C>T	uc001ylw.2	+	7	1428	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	TECPR2_uc010awl.3_Missense_Mutation_p.S401F|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	401							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATGGCCAGCTCCGTGGCCAGC	0.667000														27			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020077	9020077	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9020077C>T	uc002mkp.3	-	20	37622	c.37418G>A	c.(37417-37419)aGa>aAa	p.R12473K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12475	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCCGCTCTCTGTTGAGTCC	0.562000														158			40		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14559340	14559340	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:14559340G>A	uc021wtn.1	-	11	1384	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	366	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGGCCGGGCCGGGGGCTGTGG	0.637000														9			4		0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317371	203317372	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:203317371_203317372CC>TT	uc001gzr.3	-	1	163_164	c.27_28GG>AA	c.(25-30)ctggca>ctAAca	p.A10T		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	10					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AAGAGCCCTGCCAGCAGCAGGA	0.569000														63			13		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138632579	138632579	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:138632579C>T	uc003qhu.3	+	24	4303	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1378					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACTGTGCCCCAGCACCCGG	0.642000														10			5		0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13526307	13526307	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:13526307C>T	uc001rbs.2	-	2	500	c.248G>A	c.(247-249)tGg>tAg	p.W83*						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCGTGCAATCCAGCAGAATGT	0.473000														69			14		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71650896	71650897	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:71650896_71650897CC>TT	uc002shx.3	+	21	4575_4576	c.4252_4253CC>TT	c.(4252-4254)cca>TTa	p.P1418L	ZNF638_uc010yqw.1_Missense_Mutation_p.P997L|ZNF638_uc002shz.3_Missense_Mutation_p.P1418L|ZNF638_uc002shy.3_Missense_Mutation_p.P1418L|ZNF638_uc002sia.3_Missense_Mutation_p.P1418L|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.P515L|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1418					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAAAGTTTTCCAAAATCTGTG	0.396000														28			11		0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79207828	79207828	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:79207828G>A	uc002jzu.2	-	4	386	c.328C>T	c.(328-330)Cct>Tct	p.P110S	C17orf56_uc002jzr.2_5'Flank|C17orf56_uc002jzs.2_5'UTR|C17orf56_uc002jzt.2_5'UTR|C17orf56_uc002jzv.2_5'UTR	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	110						integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGTGCAGAGGATCTGGGGGC	0.677000														10			3		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823931	146823931	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:146823931G>A	uc003ikn.3	-	1	528	c.480C>T	c.(478-480)tcC>tcT	p.S160S	ZNF827_uc003ikm.3_Silent_p.S160S|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGGCGTGGTGGGAAGGCGGGG	0.547000														55			15		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180835380	180835380	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:180835380G>A	uc010frh.1	-	9	1444	c.1144C>T	c.(1144-1146)Ctt>Ttt	p.L382F	CWC22_uc002unp.2_Missense_Mutation_p.L382F	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	382						catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GACTTACTAAGAACATCTTCT	0.363000														8			3		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7942715	7942715	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7942715C>T	uc002gju.3	+	1	275	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ALOX15B_uc002gjv.3_Silent_p.F53F|ALOX15B_uc002gjw.3_Silent_p.F53F|ALOX15B_uc010vun.2_Silent_p.F53F|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	53	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AGGAGGACTTCCAGGTGACGC	0.697000														16			5		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392081	178392081	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:178392081C>T	uc003mjo.2	+	4	977	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H226Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H226Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAAAGCCTTTCACCAGAGTAC	0.373000														64			23		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24304759	24304759	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:24304759C>T	uc003xeb.3	+	2	330	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	ADAM7_uc003xea.1_Missense_Mutation_p.H73Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	73					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTTAGTCCTTCATCTTCTAAG	0.338000														62			7		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209103868	209103868	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:209103868C>T	uc002vcs.3	-	8	1327	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	IDH1_uc002vct.3_Missense_Mutation_p.E361K|IDH1_uc002vcu.3_Missense_Mutation_p.E361K	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	361					2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAGAGACTTCTTCCAAAGCA	0.428000			Mis		gliobastoma									33			12		0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38972719	38972719	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:38972719C>T	uc003gto.3	-	5	970	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	TMEM156_uc010ifj.3_Missense_Mutation_p.E287K	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	288						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGAAGCACTTCCTGGACTTGA	0.418000														65			16		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122803822	122803822	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:122803822G>A	uc001ucg.2	-	17	3478	c.3323C>T	c.(3322-3324)tCc>tTc	p.S1108F	CLIP1_uc001uch.1_Missense_Mutation_p.S1097F|CLIP1_uc001uci.1_Missense_Mutation_p.S1062F|CLIP1_uc001ucj.1_Missense_Mutation_p.S683F	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1108					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCCTCCAAGGAGGCCAGAGT	0.398000														44			11		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91083279	91083279	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:91083279T>A	uc002bpp.3	+	1	247	c.141T>A	c.(139-141)ttT>ttA	p.F47L	CRTC3_uc002bpn.3_Missense_Mutation_p.F47L|CRTC3_uc002bpo.3_Missense_Mutation_p.F47L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	47	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Q46E(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGGTTCAATTTCAGAAGCTTC	0.453000			T	MAML2	salivary gland mucoepidermoid									46			12		0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4101103	4101104	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:4101103_4101104CC>TT	uc002lzk.3	-	5	872_873	c.618_619GG>AA	c.(616-621)ggggag>ggAAag	p.E207K	MAP2K2_uc002lzj.3_Missense_Mutation_p.E17K	NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	207	Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E207K(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTGATCTCCCCTCTAGAGT	0.653000														7			8		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38994972	38994972	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:38994972G>A	uc002oit.3	+	49	8169	c.8039G>A	c.(8038-8040)tGg>tAg	p.W2680*	RYR1_uc002oiu.3_Nonsense_Mutation_p.W2680*|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2680	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAACTCTTCTGGGGCATCTTT	0.582000														25			13		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173886390	173886390	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:173886390G>A	uc001gjt.3	-	0	127	c.8C>T	c.(7-9)tCc>tTc	p.S3F		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	3					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TATCACATTGGAATACATGGC	0.502000														25			8		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164730793	164730793	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:164730793G>A	uc003fei.3	-	33	4100	c.4037C>T	c.(4036-4038)aCt>aTt	p.T1346I		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1346	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	TTCCGTTAGAGTTTTATCTAT	0.328000										HNSCC(35;0.089)				58			12		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263364	1263364	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:1263364G>A	uc001lta.3	+	30	5313	c.5254G>A	c.(5254-5256)Gag>Aag	p.E1752K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1752	7 X Cys-rich subdomain repeats.|Thr-rich.				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)		ACTCACGAGCGAGCTGTCCAC	0.637000														21			7		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415820	10415820	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:10415820G>A	uc002gmo.3	-	11	1146	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	351	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTATAGATGGACACTCTTTC	0.438000														65			14		0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	831774	831774	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:831774C>T	uc002lpz.1	+	4	669	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	218	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCTTTTCCCTGGGGCCC	0.711000														41			12		0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637199	18637199	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:18637199G>A	uc001moy.3	-	2	838	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F	SPTY2D1_uc010rdi.1_Missense_Mutation_p.L208F	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	208										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTTCGTTCAAGGAATTCTCGC	0.443000														103			26		0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91989597	91989597	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:91989597G>A	uc001doe.3	+	12	1496	c.1331_splice	c.e12-1	p.G444_splice	CDC7_uc001dof.3_Splice_Site_p.G444_splice|CDC7_uc010osw.2_Splice_Site_p.G416_splice|CDC7_uc009wdc.3_Splice_Site_p.G444_splice|CDC7_uc009wdd.3_Splice_Site_p.G87_splice	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	444	Protein kinase.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TTTGCTTTTAGGGAAATCAAT	0.333000														30			14		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80547042	80547042	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:80547042C>T	uc003khc.4	+	2	333	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Silent_p.L31L|CKMT2_uc003khd.4_Silent_p.L31L|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	31					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CACCGGGTACCTGCTGAACCG	0.537000														184			40		0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60789818	60789818	+	Splice_Site	SNP	A	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:60789818A>C	uc002agv.3	-	12	1663	c.1507_splice	c.e12-1	p.L503_splice	BC035094_uc002ags.1_Intron|RORA_uc002agt.4_Splice_Site_p.L415_splice|RORA_uc021sni.1_Splice_Site_p.L413_splice|RORA_uc002agw.3_Splice_Site_p.L495_splice|RORA_uc002agx.3_Splice_Site_p.L470_splice	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	503	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTGCATATTAACTGTAAGTGA	0.388000														47			6		0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37652938	37652938	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:37652938C>T	uc004ddr.2	+	4	419	c.358C>T	c.(358-360)Cta>Tta	p.L120L	CYBB_uc011mke.1_Intron|CYBB_uc011mkf.1_Silent_p.L88L|CYBB_uc011mkg.1_Intron	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	120	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CATTGCACATCTATTTAATGT	0.403000														33			12		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241018	3241018	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:3241018C>T	uc004crg.4	-	4	2865	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	903						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCAGGTCTCCTTCAGTGGA	0.458000														17			19		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427948	47427948	+	Silent	SNP	G	A	A	rs79262532		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:47427948G>A	uc003gxh.3	+	8	1712	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	GABRB1_uc011bze.2_Silent_p.V376V	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	446					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.D445Y(1)|p.D445E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGACTGATGTGAATTCCATAG	0.527000														92			31		0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118869782	118869782	+	Nonsense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:118869782A>T	uc001pul.3	+	2	402	c.346A>T	c.(346-348)Aaa>Taa	p.K116*	CCDC84_uc010ryk.2_Non-coding_Transcript|CCDC84_uc010ryl.2_Non-coding_Transcript|CCDC84_uc010rym.2_Non-coding_Transcript	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	Homo sapiens coiled-coil domain containing 84 (CCDC84), mRNA.	116										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGTCCAGATGAAAGAGAAGTT	0.453000														18			10		0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31510692	31510692	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:31510692G>A	uc002eci.2	-	4	543	c.531C>T	c.(529-531)ttC>ttT	p.F177F	C16orf58_uc010vfq.1_Silent_p.F35F	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	177						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TAATCTCAAGGAACATGGCTA	0.527000														53			19		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73456957	73456957	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:73456957C>T	uc003tzw.3	+	5	337	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Silent_p.F82F|ELN_uc003tzy.3_Silent_p.F72F|ELN_uc003tzz.3_Silent_p.F70F|ELN_uc003tzo.3_Silent_p.F82F|ELN_uc003tzp.3_Silent_p.F72F|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.F82F|ELN_uc003tzt.3_Silent_p.F82F|ELN_uc003tzu.3_Silent_p.F82F|ELN_uc003tzv.3_Silent_p.F72F|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Silent_p.F72F|ELN_uc011kff.2_Silent_p.F82F	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	82					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCGGCGCCTTCCCCGCAGTTA	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							46			22		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087088	92087088	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:92087088G>A	uc001pdj.4	+	0	1827	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	604	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D604N(2)		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)				CTCAGCGATCGATATCGATGA	0.388000										TCGA Ovarian(4;0.039)				21			7		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374558	113374558	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:113374558G>A	uc003eam.3	-	6	6382	c.5971C>T	c.(5971-5973)Cgt>Tgt	p.R1991C	KIAA2018_uc003eal.3_Missense_Mutation_p.R1935C	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1991					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCAGGCTGACGAATTTTGGAA	0.478000														18			7		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700060	30700060	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:30700060G>A	uc003xil.3	-	0	6474	c.6474C>T	c.(6472-6474)ctC>ctT	p.L2158L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2158										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTCTCTTGAGAGCAAATGAA	0.328000														25			15		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378001	55378001	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:55378001G>A	uc002qhl.4	+	8	1246	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	KIR3DL2_uc002qho.4_Missense_Mutation_p.E395K|KIR3DL2_uc010esh.3_Missense_Mutation_p.E378K			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	395					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AGACCCTCAGGAGGTGACGTA	0.498000														192			51		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211074	50211074	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:50211074G>A	uc001zxu.3	-	18	2139	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	ATP8B4_uc010ber.3_Missense_Mutation_p.A539V|ATP8B4_uc010ufd.2_Missense_Mutation_p.A476V|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	666					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	p.A666S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTAATATTGGCTAGTGATAA	0.343000														61			24		0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41196702	41196702	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:41196702G>A	uc003oqc.3	+	1	418	c.314G>A	c.(313-315)gGa>gAa	p.G105E	TREML4_uc003oqd.3_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	105	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AATGACTCGGGATTCTACTGG	0.468000														69			17		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89848347	89848347	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:89848347G>A	uc010bnp.1	+	29	3149	c.3059_splice	c.e29-1	p.E1020_splice	FANCI_uc002bnm.1_Splice_Site_p.E960_splice|FANCI_uc002bnn.1_Splice_Site|FANCI_uc002bnp.1_Splice_Site_p.E781_splice|FANCI_uc002bnq.1_Splice_Site_p.E433_splice	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1020					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TATTCCTAGAGGATGCCTTGT	0.488000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					92			26		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73521427	73521427	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:73521427C>T	uc003uaa.2	+	7	1183	c.969C>T	c.(967-969)tcC>tcT	p.S323S	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.S289S|LIMK1_uc003uac.1_Silent_p.S115S	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	323					Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GCTCTGAGTCCCTCCGCGTAG	0.692000														13			7		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123276927	123276927	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:123276927C>T	uc021pzz.1	-	7	1637	c.990G>A	c.(988-990)cgG>cgA	p.R330R	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Silent_p.R215R|FGFR2_uc021pzx.1_Silent_p.R241R|FGFR2_uc021pzy.1_Intron|FGFR2_uc010qtl.2_Intron|FGFR2_uc010qtm.2_Silent_p.R215R|FGFR2_uc021qaa.1_Intron|FGFR2_uc021qab.1_Intron|FGFR2_uc021qac.1_Intron|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Silent_p.R349R|FGFR2_uc010qto.2_Silent_p.R234R|FGFR2_uc001lfo.1_3'UTR|FGFR2_uc001lfg.4_5'UTR	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	330	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.R330W(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AAGTTACATTCCGAATATAGA	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					28			14		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65198503	65198503	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:65198503C>G	uc001xhp.2	+	7	1143	c.1104C>G	c.(1102-1104)agC>agG	p.S368R	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S312R|PLEKHG3_uc001xho.1_Missense_Mutation_p.S368R|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	368	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACAAGCACAGCAAGCAGCAGT	0.597000														42			10		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555430	10555430	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:10555430C>A	uc003wtd.1	+	2	592	c.563C>A	c.(562-564)gCg>gAg	p.A188E	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	188										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CTGAAAGAGGCGCTGCGCCTG	0.692000														19			3		1	1	1	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28211921	28211921	+	Silent	SNP	G	A	A	rs138450833	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:28211921G>A	uc002ymf.3	-	6	2468	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	671	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCTGCAAAACGAAGAAGTAGC	0.458000														99			20		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445391	49445391	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:49445391G>A	uc001rta.4	-	9	2075	c.2075C>T	c.(2074-2076)cCa>cTa	p.P692L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	692	Pro-rich.		P -> T.	Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTCCTCAGGTGGTGGGGAGAG	0.662000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				81			17		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34068090	34068090	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:34068090G>A	uc001bxm.1	-	42	6766	c.6589C>T	c.(6589-6591)Cct>Tct	p.P2197S	CSMD2_uc001bxn.1_Missense_Mutation_p.P2199S|CSMD2_uc001bxo.1_Missense_Mutation_p.P1070S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2199	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACGGGCTAGGGAACCCCGGG	0.622000														31			13		0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12298667	12298667	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:12298667C>T	uc002mti.3	+	3	1621	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*	ZNF136_uc010xmh.2_Nonsense_Mutation_p.R426*	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	492					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TAGTTCCTTTCGACTACATGA	0.423000														31			9		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139350554	139350554	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:139350554G>A	uc004chx.3	-	18	5924	c.5615C>T	c.(5614-5616)gCc>gTc	p.A1872V	SEC16A_uc004chs.3_5'Flank|SEC16A_uc004cht.3_5'Flank|SEC16A_uc004chu.3_Missense_Mutation_p.A57V|SEC16A_uc004chv.4_Missense_Mutation_p.A1262V|SEC16A_uc004chw.3_Missense_Mutation_p.A1872V|SEC16A_uc010nbn.3_Missense_Mutation_p.A1872V	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1694	Pro-rich.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGTGGGTGCGGCCAAGGACTC	0.582000														51			20		0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102894633	102894633	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:102894633T>A	uc003koi.3	-	2	836	c.743A>T	c.(742-744)tAc>tTc	p.Y248F	NUDT12_uc011cvb.2_Missense_Mutation_p.Y230F	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	248						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATGAAGAAAGTAACAATTTTC	0.403000														26			7		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19258860	19258860	+	Splice_Site	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:19258860C>T	uc001mpm.3	-	4	973	c.451_splice	c.e4+1	p.N151_splice	E2F8_uc009yhv.3_Splice_Site|E2F8_uc001mpn.4_Splice_Site_p.N151_splice	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	151					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCATACTTACTAAGTTCCTC	0.388000														31			10		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055469	9055469	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:9055469G>A	uc003brf.1	-	15	2547	c.1871C>T	c.(1870-1872)cCc>cTc	p.P624L	SRGAP3_uc003brg.1_Missense_Mutation_p.P600L	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	624	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.L623I(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GACCACGCGGGGAAGGGTGAC	0.547000			T	RAF1	pilocytic astrocytoma									60			21		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95556114	95556114	+	Silent	SNP	G	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:95556114G>T	uc003ygo.2	-	1	191	c.120C>A	c.(118-120)gtC>gtA	p.V40V	KIAA1429_uc003ygp.3_Silent_p.V40V	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	40					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTATGACTCGGACTTCATTGA	0.408000														167			38		1.76056e-25	1.80444e-25	1	1	0
STAB2	55576	broad.mit.edu	37	12	104121097	104121097	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:104121097C>T	uc001tjw.3	+	46	5090	c.4904C>T	c.(4903-4905)cCt>cTt	p.P1635L	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1635	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTTTTTGCACCTTTATCTGCA	0.542000														164			25		0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844517	5844517	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:5844517C>T	uc002mdk.2	-	1	431	c.334G>A	c.(334-336)Gat>Aat	p.D112N	FUT3_uc002mdm.2_Missense_Mutation_p.D112N|FUT3_uc002mdj.2_Missense_Mutation_p.D112N|FUT3_uc002mdl.2_Missense_Mutation_p.D112N|FUT3_uc021unn.1_Missense_Mutation_p.D112N|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	112					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GACATGATATCCCAGTGGTGC	0.622000														84			32		0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997708	28997708	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:28997708C>T	uc010vdj.2	+	5	395	c.359C>T	c.(358-360)tCc>tTc	p.S120F	NPIPL1_uc010vct.2_Intron|LAT_uc002dsb.3_Missense_Mutation_p.S84F|LAT_uc002dsd.3_Missense_Mutation_p.S84F|LAT_uc002dsc.3_Missense_Mutation_p.S83F|LAT_uc010vdk.1_Missense_Mutation_p.S84F|LAT_uc010vdl.1_Missense_Mutation_p.S83F	NM_001014989	NP_001014987	O43561	LAT_HUMAN	Homo sapiens linker for activation of T cells (LAT), transcript variant 4, mRNA.	84					Ras protein signal transduction|T cell receptor signaling pathway|calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|regulation of T cell activation	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CCCAGAAGATCCCCGCAGCCC	0.622000														95			23		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858045	154858045	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:154858045G>A	uc010hvr.1	+	9	1132	c.921G>A	c.(919-921)caG>caA	p.Q307Q	MME_uc003fab.1_Silent_p.Q307Q|MME_uc003fac.1_Silent_p.Q307Q|MME_uc003fad.1_Silent_p.Q307Q|MME_uc003fae.1_Silent_p.Q307Q	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	307					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q307H(4)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CATTGGCCCAGATCCAAAATA	0.323000														34			12		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606115	84606115	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:84606115C>G	uc004amn.3	+	3	777	c.730C>G	c.(730-732)Ccc>Gcc	p.P244A		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	244	Pro-rich.					integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCAACAGCTTCCCTTTCCCCT	0.527000														194			25		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525595	150525595	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:150525595G>A	uc009wlw.3	+	3	458	c.300G>A	c.(298-300)caG>caA	p.Q100Q	ADAMTSL4_uc001euw.3_Silent_p.Q100Q|ADAMTSL4_uc001eux.3_Silent_p.Q100Q|ADAMTSL4_uc010pcg.2_Silent_p.Q100Q	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	100					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCGGGGCCAGGGTCCCAGAC	0.667000														51			7		0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177162612	177162612	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:177162612C>T	uc002ukx.3	+	2	359	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	MTX2_uc002ukw.3_Missense_Mutation_p.L32F	NM_006554	NP_006545	O75431	MTX2_HUMAN	Homo sapiens metaxin 2 (MTX2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGCAGCTTCTCTTGCAGTGCA	0.318000														18			3		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101163	119101164	+	Silent	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:119101163_119101164CC>TT	uc003ecj.4	+	4	988_989	c.456_457CC>TT	c.(454-459)cacctg>caTTtg	p.152_153HL>HL		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	152	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGATTCGACACCTGGCCCATAT	0.510000														96			32		0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91371713	91371714	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:91371713_91371714CC>TT	uc001kgp.2	-	1	1065_1066	c.795_796GG>AA	c.(793-798)gaggaa>gaAAaa	p.E266K	PANK1_uc001kgn.2_Missense_Mutation_p.E41K|PANK1_uc001kgo.2_Missense_Mutation_p.E41K|PANK1_uc009xtu.2_Missense_Mutation_p.E68K	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	266					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTCTCCACTTCCTCTTGCTCCT	0.475000														54			14		0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13054702	13054702	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:13054702C>T	uc002mvu.2	+	8	1309	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	410	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion	MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	gaagatgTCCCCGGCCAGGCC	0.592000														4			4		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32406923	32406923	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:32406923T>C	uc003jhr.1	-	5	1068	c.988A>G	c.(988-990)Att>Gtt	p.I330V	ZFR_uc010iun.1_Missense_Mutation_p.I330V	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	330					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CAATAGTGAATCTGTGGTGGT	0.428000														69			21		0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71361229	71361229	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:71361229C>T	uc002sht.2	+	2	1272	c.920C>T	c.(919-921)tCg>tTg	p.S307L	MPHOSPH10_uc010feb.1_Missense_Mutation_p.S307L	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	307					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CTAAGTATTTCGGAAACGTGA	0.358000														50			16		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200954086	200954086	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:200954086C>T	uc001gvs.2	-	26	4021	c.3704G>A	c.(3703-3705)gGa>gAa	p.G1235E	KIF21B_uc009wzl.2_Missense_Mutation_p.G1235E|KIF21B_uc001gvr.2_Missense_Mutation_p.G1235E|KIF21B_uc010ppn.2_Missense_Mutation_p.G1235E	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1235					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGTGTGAATCCCACATCTGT	0.612000														39			10		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51196695	51196695	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:51196695G>A	uc011bds.2	+	10	872	c.849G>A	c.(847-849)atG>atA	p.M283I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	283						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAAAGATATGAAGAGAGATT	0.353000														44			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050129	9050129	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9050129G>A	uc002mkp.3	-	4	31706	c.31502C>T	c.(31501-31503)cCc>cTc	p.P10501L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10503	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCAAAGTGGGAGTATAGAC	0.498000														311			98		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23588207	23588207	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:23588207C>T	uc001wiv.2	-	0	614	c.94G>A	c.(94-96)Gac>Aac	p.D32N		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCACACATGTCCCCTAGCTCC	0.647000														61			24		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761099	27761100	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:27761099_27761100CC>TT	uc002dow.3	+	15	2842_2843	c.2818_2819CC>TT	c.(2818-2820)ccc>TTc	p.P940F		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	940										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CGACTTGCCCCCCTCCAAGAAG	0.629000														38			6		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600281	3600281	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:3600281C>T	uc003jde.3	+	1	1271	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	407	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTCACCTTCCTGCACCTCC	0.692000														56			17		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981199	981199	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:981199C>T	uc001ack.2	+	14	2673	c.2623C>T	c.(2623-2625)Ccc>Tcc	p.P875S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	875	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGTGGCTGGACCCAAGTGTGG	0.672000														91			33		0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14810037	14810037	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:14810037G>A	uc002mzn.3	+	4	384	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ZNF333_uc010dzq.2_Missense_Mutation_p.E84K|ZNF333_uc002mzk.4_5'UTR|ZNF333_uc002mzl.3_Missense_Mutation_p.E84K|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TAAACCCGAAGAGTTGCCTTC	0.423000														98			27		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812196	116812196	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:116812196A>G	uc004bid.3	+	14	2713	c.2614A>G	c.(2614-2616)Aat>Gat	p.N872D	ZNF618_uc004bic.3_Missense_Mutation_p.N779D|ZNF618_uc011lxi.2_Missense_Mutation_p.N839D|ZNF618_uc011lxj.2_Missense_Mutation_p.N840D|ZNF618_uc010mvb.3_Missense_Mutation_p.N462D	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCTAGGCAAAAATGAAGTGTA	0.587000														88			13		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72308565	72308565	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:72308565G>A	uc010rrc.2	-	4	668	c.422C>T	c.(421-423)cCt>cTt	p.P141L	PDE2A_uc001oso.3_Missense_Mutation_p.P120L|PDE2A_uc010rra.2_Missense_Mutation_p.P134L|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.P132L|PDE2A_uc010rrd.2_Intron	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	141					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTGGGTATCAGGAGCCAGTGG	0.642000														21			10		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294026	219294026	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:219294026G>A	uc002vib.3	+	5	608	c.586G>A	c.(586-588)Gag>Aag	p.E196K	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.E196K|VIL1_uc002vic.1_Missense_Mutation_p.E196K	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	196	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGCCAAGGAGATCCGAGA	0.617000														73			23		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47462122	47462122	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:47462122G>A	uc003crh.1	-	11	1740	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	SCAP_uc011baz.1_Silent_p.F240F|SCAP_uc003crg.2_Silent_p.F103F	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	495					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCAGGTTTCGGAAGGAAGACG	0.662000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			9		0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431861	31431861	+	RNA	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:31431861C>T	uc003ntl.3	+	1		c.814C>T			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						ggaccttctaccctgcagagt	0.488000														54			14		0	0	1	0	0
SEBOX	645832	broad.mit.edu	37	17	26692248	26692248	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:26692248C>T	uc010wai.1	-	0	18	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	Homo sapiens SEBOX homeobox (SEBOX), mRNA.	2					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCAGACCCCCCCATTTGGGTT	0.617000														16			6		0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47558458	47558458	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:47558458G>A	uc002zig.3	-	11	1451	c.1407C>T	c.(1405-1407)gcC>gcT	p.A469A	FTCD_uc002zie.3_Non-coding_Transcript|FTCD_uc002zif.3_Silent_p.A469A|FTCD_uc002zih.3_Silent_p.A469A|FTCD_uc010gqf.3_Missense_Mutation_p.P455S|FTCD_uc010gqg.1_Silent_p.A338A			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	469	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCCCACACCGGGCCAGTTCCT	0.721000														12			4		0	0	1	0	0
MYADML	151325	broad.mit.edu	37	2	33952676	33952676	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:33952676G>A	uc002rpb.3	-	0	609	c.167C>T	c.(166-168)tCc>tTc	p.S56F						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		GTGGTCGCGGGAACGGCCGTG	0.637000														32			7		0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	133008661	133008661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:133008661C>T	uc003yte.3	+	18	2278	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	692						plasma membrane	binding	p.R692*(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGATGAAGATCGACTTTCTAG	0.308000														17			3		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967420	81967420	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:81967420C>T	uc003hmg.4	+	1	1165	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	282					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCTGCCCTTTCCATTGAGCGG	0.507000														70			20		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56589829	56589829	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:56589829G>A	uc002iwj.2	-	3	242	c.132C>T	c.(130-132)ttC>ttT	p.F44F	MTMR4_uc010dcx.1_Silent_p.F58F	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	44						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.F44F(2)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCGGCCCAGGAACTCTACTC	0.522000														56			16		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95952587	95952587	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:95952587C>T	uc002suk.3	+	17	2209	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	PROM2_uc002suh.2_Silent_p.S692S|PROM2_uc002sui.3_Silent_p.S692S|PROM2_uc002suj.3_Silent_p.S346S|PROM2_uc002sul.3_Silent_p.S218S|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	692						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.S692S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTGGAGTCCTCTGCCCCGA	0.627000														42			19		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3661039	3661039	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:3661039G>A	uc002lyj.2	-	4	482	c.393C>T	c.(391-393)ttC>ttT	p.F131F	PIP5K1C_uc010xhq.2_Silent_p.F131F|PIP5K1C_uc010xhr.2_Silent_p.F131F	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	131	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTTGAAGCGGAAGTCCTGGA	0.597000														163			36		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040371	88040371	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:88040371C>T	uc003dqr.2	+	1	630	c.472C>T	c.(472-474)Cct>Tct	p.P158S	HTR1F_uc021xbd.1_Missense_Mutation_p.P158S	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	158					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CTCTATGCCTCCTCTATTCTG	0.403000														18			8		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295722	212295722	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:212295722A>G	uc002veg.1	-	20	2689	c.2591T>C	c.(2590-2592)cTa>cCa	p.L864P	ERBB4_uc002veh.1_Missense_Mutation_p.L864P|ERBB4_uc010zji.1_Missense_Mutation_p.L854P|ERBB4_uc010zjj.1_Missense_Mutation_p.L854P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	864	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAGTCTGGCTAGCCCAAAATC	0.403000										TSP Lung(8;0.080)				74			38		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216331	55216331	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:55216331C>T	uc003pcm.1	+	4	737	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	217						integral to membrane	receptor activity	p.P216P(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGTTCCACCCCCTACTTGCC	0.428000														52			14		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849942	35849942	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:35849942G>A	uc002nzd.3	+	1	225	c.150G>A	c.(148-150)gtG>gtA	p.V50V	FFAR3_uc021usm.1_Silent_p.V50V	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	50						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTGGCCGTGGACGTGCTCC	0.657000														125			23		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46053572	46053572	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:46053572C>T	uc003gxb.3	-	7	1152	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	334					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACAAAGAGATCCATCGCAGTC	0.388000														44			15		0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931683	115931684	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:115931683_115931684GG>AA	uc004bgs.2	-	25	3458_3459	c.3305_3306CC>TT	c.(3304-3306)ccc>cTT	p.P1102L	FKBP15_uc004bgr.2_Missense_Mutation_p.P539L|FKBP15_uc011lxc.1_Missense_Mutation_p.P683L|FKBP15_uc011lxd.1_Missense_Mutation_p.P1034L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	1102					endocytosis|protein folding	axon|early endosome	actin binding	p.P1102P(1)|p.P1127P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCCCTCCTCGGGGTCTGAAGT	0.579000														77			9		0	0	1	0	0
SUMO4	387082	broad.mit.edu	37	6	149721676	149721676	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:149721676C>T	uc003qml.3	+	0	182	c.149C>T	c.(148-150)cCa>cTa	p.P50L	TAB2_uc011eec.2_Intron|TAB2_uc003qmj.3_Intron|TAB2_uc010kib.2_Intron|TAB2_uc003qmk.4_Intron	NM_001002255	NP_001002255	Q6EEV6	SUMO4_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae) (SUMO4), mRNA.	50	Ubiquitin-like.									breast(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282)		TATTGTGAACCACGGGGATTG	0.438000														92			33		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146105	55146105	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:55146105C>T	uc002qgj.3	+	10	1714	c.1374C>T	c.(1372-1374)caC>caT	p.H458H	LILRB1_uc010erp.1_Silent_p.H73H|LILRB1_uc002qgl.3_Silent_p.H458H|LILRB1_uc002qgk.3_Silent_p.H459H|LILRB1_uc002qgm.3_Silent_p.H459H|LILRB1_uc010erq.3_Silent_p.H442H|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	458					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGGAAGGCACCTGGGGGTTG	0.567000										HNSCC(37;0.09)				38			9		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124483383	124483383	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:124483383G>A	uc003eho.3	-	13	2456	c.2159C>T	c.(2158-2160)gCc>gTc	p.A720V	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	720					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATGGTCATGGCGTTGGGGGT	0.577000														17			9		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994589	140994589	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:140994589C>A	uc004fbt.3	+	3	1723	c.1399C>A	c.(1399-1401)Cac>Aac	p.H467N	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.H126N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	467				H -> Q (in Ref. 1; AAC18837).			protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGAACTCACAGTACTTT	0.488000										HNSCC(15;0.026)				68			52		2.84144e-21	2.90669e-21	1	1	0
PTGIS	5740	broad.mit.edu	37	20	48156191	48156191	+	Missense_Mutation	SNP	G	T	T	rs139965033	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:48156191G>T	uc002xut.3	-	4	643	c.589C>A	c.(589-591)Cgc>Agc	p.R197S	PTGIS_uc010zyi.2_Missense_Mutation_p.R58S	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	197					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GAGTGGACGCGGTCCTGGGCC	0.647000														17			6		0.217242	0.217649	1	1	0
CILP2	148113	broad.mit.edu	37	19	19653753	19653754	+	Missense_Mutation	DNP	GG	AA	AA	rs146789008		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:19653753_19653754GG>AA	uc002nmw.4	+	5	1052_1053	c.967_968GG>AA	c.(967-969)ggg>AAg	p.G323K	CILP2_uc002nmv.4_Missense_Mutation_p.G317K	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	317	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAAAGCCTCCGGGACCCCCATG	0.559000														84			24		0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38977332	38977332	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:38977332G>A	uc002rqz.3	-	1	271	c.33C>T	c.(31-33)acC>acT	p.T11T	SRSF7_uc010ynp.2_Silent_p.T11T|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	11	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CATACACCTTGGTTTCTGTTT	0.413000														70			18		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401178	89401178	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:89401178G>A	uc010upo.1	+	11	5736	c.5362G>A	c.(5362-5364)Gaa>Aaa	p.E1788K	ACAN_uc010upp.1_Missense_Mutation_p.E1788K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1788					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTGAGTGGAGAAACATCTGG	0.532000														38			9		0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	239273	239273	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:239273G>A	uc002cgc.1	-	9	1151	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_Non-coding_Transcript|LUC7L_uc002cge.1_3'UTR|LUC7L_uc021szo.1_Missense_Mutation_p.P294L|LUC7L_uc002cgb.1_Missense_Mutation_p.P261L	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	Homo sapiens LUC7-like (S. cerevisiae) (LUC7L), transcript variant 2, mRNA.	347	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCCAGTCCGGGGGCCCTCG	0.632000														73			32		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124352581	124352581	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:124352581G>A	uc001uft.4	+	41	7105	c.7080G>A	c.(7078-7080)atG>atA	p.M2360I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2360					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGGAAGGATGAAATTTGACG	0.502000														23			4		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646682	57646682	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:57646682C>T	uc002qnz.1	-	4	1409	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAGGCCTTCTCACATATGC	0.403000														92			24		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505183	159505183	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:159505183C>T	uc010piw.2	-	0	615	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCACAAAAATCACAAATGAAC	0.398000														49			10		0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76573850	76573850	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:76573850C>A	uc003hir.3	-	8	1066	c.901G>T	c.(901-903)Ggt>Tgt	p.G301C	G3BP2_uc003his.3_Missense_Mutation_p.G301C|G3BP2_uc003hit.3_Missense_Mutation_p.G268C	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA.	301					Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGAGGAAAACCAGGTCGTTCT	0.398000														21			7		8.12818e-05	8.21269e-05	1	1	0
ZNF550	162972	broad.mit.edu	37	19	58059143	58059144	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:58059143_58059144GG>AA	uc002qpe.1	-	1	345_346	c.345_346CC>TT	c.(343-348)agcctt>agTTtt	p.L116F	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACCTTCAAGGCTCACTTTCC	0.505000														286			69		0	0	1	0	0
AGPAT6	137964	broad.mit.edu	37	8	41456766	41456766	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:41456766T>A	uc003xnz.2	+	1	1047	c.108T>A	c.(106-108)ttT>ttA	p.F36L		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	36					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CAGCCATTTTTGGAGTCTCCT	0.443000														85			40		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42717175	42717175	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:42717175T>C	uc001zpw.3	-	12	5305	c.4978A>G	c.(4978-4980)Agc>Ggc	p.S1660G	ZFP106_uc001zpu.3_Missense_Mutation_p.S758G|ZFP106_uc001zpv.3_Missense_Mutation_p.S845G|ZFP106_uc001zpx.3_Missense_Mutation_p.S888G	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	1660						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GCAAGACAGCTGACTGCCCGA	0.483000														54			7		0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090279	56090279	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:56090279C>T	uc002qlh.3	-	1	780	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	ZNF579_uc021vby.1_Missense_Mutation_p.G243S	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TTGAGCTCGCCCTTGGTGGCG	0.711000														9			4		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5262892	5262893	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:5262892_5262893CC>TT	uc003jdl.3	+	17	2923_2924	c.2785_2786CC>TT	c.(2785-2787)ccc>TTc	p.P929F	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P929F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	929	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCCTGTCCTCCCAGGTAAGAA	0.510000														44			19		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68193597	68193597	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:68193597C>T	uc001ont.3	+	15	3654	c.3579C>T	c.(3577-3579)ggC>ggT	p.G1193G	LRP5_uc009ysg.3_Silent_p.G603G	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1193	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCATCCAGGGCCGTGTCGCCC	0.622000														74			30		0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33938002	33938002	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:33938002C>A	uc003jic.2	+	0	1512	c.1157C>A	c.(1156-1158)cCc>cAc	p.P386H		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	386						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGCCTCAACCCCGTCCTCTAC	0.622000														101			17		1.00905e-13	1.03025e-13	1	1	0
ZYX	7791	broad.mit.edu	37	7	143086960	143086960	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:143086960C>T	uc003wcx.3	+	8	1662	c.1504C>T	c.(1504-1506)Ccg>Tcg	p.P502S	ZYX_uc011ktd.2_Missense_Mutation_p.P345S|ZYX_uc003wcw.3_Missense_Mutation_p.P502S|ZYX_uc011kte.2_Missense_Mutation_p.P471S|ZYX_uc011ktf.2_Missense_Mutation_p.P345S	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	502	LIM zinc-binding 2.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCAGTACGCCCCGAGGTGCTC	0.607000														54			12		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:46107841C>T	uc003oxy.3	+	1	780	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393000														66			18		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982021	93982021	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:93982021C>T	uc003poe.3	-	5	1685	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	EPHA7_uc003pof.3_Missense_Mutation_p.E482K|EPHA7_uc011eac.2_Missense_Mutation_p.E482K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	482	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E482D(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTACTTTCTCGTAATACTTG	0.418000														79			36		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051791	79051791	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:79051791C>T	uc002bej.4	-	23	5244	c.5033G>A	c.(5032-5034)cGa>cAa	p.R1678Q		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1678					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTGATGGCCTCGGGAGGGGGC	0.731000														15			11		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9014253	9014253	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:9014253C>T	uc002czl.2	-	4	773	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	USP7_uc010uyk.1_Missense_Mutation_p.E93K|USP7_uc010uyj.1_Missense_Mutation_p.E93K|USP7_uc002czk.2_Missense_Mutation_p.E176K|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	192	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACAAAGACTTCAAAGGTAACT	0.363000														53			14		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596793	136596793	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:136596793G>A	uc003qgx.1	-	5	1982	c.1729C>T	c.(1729-1731)Cat>Tat	p.H577Y	BCLAF1_uc003qgy.1_Missense_Mutation_p.H575Y|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.H575Y|BCLAF1_uc003qgw.1_Missense_Mutation_p.H404Y	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	577					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGACAGAATGGACAAGTGTA	0.398000														115			12		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123768288	123768288	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:123768288A>T	uc004bkv.3	-	19	2501	c.2471T>A	c.(2470-2472)tTc>tAc	p.F824Y	C5_uc010mvm.1_Missense_Mutation_p.F824Y	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	824					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CATTTCCAGGAAGACATCTTT	0.383000														38			11		0	0	1	0	0
AC2	0	broad.mit.edu	37	1	151993687	151993688	+	RNA	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:151993687_151993688CC>TT	uc001ezm.1	+	9		c.2522_2523CC>TT								Homo sapiens AC2 pseudogene, precursor RNA sequence.																		CGAGAGCTGGCCTGGTTAAGGA	0.480000														68			11		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4790201	4790201	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:4790201G>A	uc002cxn.3	+	3	786	c.324G>A	c.(322-324)caG>caA	p.Q108Q		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	108										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGTGCAGACAGAACACAAGGA	0.522000														72			21		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19488830	19488831	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:19488830_19488831CT>TA	uc002dgc.4	+	12	2908_2909	c.2159_2160CT>TA	c.(2158-2160)tct>tTA	p.S720L	TMC5_uc010vaq.2_Missense_Mutation_p.S668L|TMC5_uc002dgb.4_Missense_Mutation_p.S720L|TMC5_uc010var.2_Missense_Mutation_p.S720L|TMC5_uc002dgd.1_Missense_Mutation_p.S474L|TMC5_uc002dge.4_Missense_Mutation_p.S474L|TMC5_uc002dgf.4_Missense_Mutation_p.S403L|TMC5_uc002dgg.4_Missense_Mutation_p.S361L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	720						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGCCCTGTCTGGTGAAGAGG	0.416000														74			19		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442873	92442873	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:92442873C>T	uc001dol.4	+	6	1310	c.892C>T	c.(892-894)Cct>Tct	p.P298S	BRDT_uc010osz.2_Missense_Mutation_p.P302S|BRDT_uc001dok.4_Missense_Mutation_p.P298S|BRDT_uc009wdf.3_Missense_Mutation_p.P225S|BRDT_uc010otb.2_Missense_Mutation_p.P252S|BRDT_uc010ota.2_Missense_Mutation_p.P252S|BRDT_uc001dom.4_Missense_Mutation_p.P298S	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	298	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTTTTATAATCCTGTTGACGT	0.353000														59			14		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71791797	71791797	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:71791797C>T	uc002llf.2	-	6	1002	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	FBXO15_uc002lle.2_Missense_Mutation_p.E232K	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	232										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAAGCCAGTTCTTCCTCCTTC	0.363000														61			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107131445	107131445	+	RNA	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:107131445T>A	uc021ser.1	-	77		c.3545A>T								Parts of antibodies, mostly variable regions.																		CCTTTTAAAATAGCAACAAGG	0.463000														90			5		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712963	218712963	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:218712963G>A	uc002vgt.2	-	16	2300	c.1902C>T	c.(1900-1902)gtC>gtT	p.V634V	TNS1_uc002vgr.2_Silent_p.V634V|TNS1_uc002vgs.2_Silent_p.V634V|TNS1_uc010zjv.1_Silent_p.V634V|TNS1_uc010fvj.1_Silent_p.V702V|TNS1_uc010fvk.1_Silent_p.V759V|TNS1_uc010fvi.1_Silent_p.V321V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	634						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)		TTCCCCCTCGGACCGGAGCTG	0.647000														46			15		0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271514	9271514	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9271514C>T	uc002mku.3	+	6	1498	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	ZNF317_uc002mkv.3_Missense_Mutation_p.S257F|ZNF317_uc002mkw.3_Missense_Mutation_p.S366F|ZNF317_uc002mkx.3_Missense_Mutation_p.S313F|ZNF317_uc002mky.3_Missense_Mutation_p.S281F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGCGGGAAATCCTTTGGCGAT	0.512000														22			6		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450088	158450088	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:158450088G>A	uc010pik.2	+	0	421	c.421G>A	c.(421-423)Gat>Aat	p.D141N	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GATGGGTTATGATCGCTATGC	0.488000														149			54		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095627	130095627	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:130095627C>T	uc010htj.1	+	2	1109	c.615C>T	c.(613-615)atC>atT	p.I205I	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	205	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.Q204H(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGACACAGATCATCAAGGATG	0.478000														29			6		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563808	55563808	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:55563808C>T	uc010rim.2	+	0	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L258F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCATCCTTTTCCTTTACTGTG	0.483000														56			16		0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	123983175	123983175	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:123983175C>T	uc001ufe.2	-	3	953	c.717G>A	c.(715-717)gaG>gaA	p.E239E	RILPL1_uc001ufd.2_Silent_p.E88E|RILPL1_uc010tas.1_Silent_p.E239E	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 1 (RILPL1), mRNA.	239					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGCTGCCCATCTCCTGCTCCT	0.642000														63			25		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55850840	55850840	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:55850840C>T	uc002eim.3	-	7	1046	c.938G>A	c.(937-939)aGa>aAa	p.R313K	CES1_uc002eil.3_Missense_Mutation_p.R314K|CES1_uc002ein.3_Missense_Mutation_p.R313K	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	313					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)	CCTTACCTCTCTGGGGTCTCC	0.448000														162			9		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101259565	101259565	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:101259565C>T	uc003uyr.3	-	5	646	c.468G>A	c.(466-468)gaG>gaA	p.E156E		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	156	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GAATGGTCTCCTCTGGGTCCG	0.587000														40			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106452920	106452921	+	RNA	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:106452920_106452921CC>TT	uc021ser.1	-	2607		c.45039_45040GG>AA								Parts of antibodies, mostly variable regions.																		TCACTGAGGCCCCAGGCTTCTT	0.589000														32			26		0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37665729	37665729	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:37665729G>A	uc004ddr.2	+	10	1465	c.1404G>A	c.(1402-1404)agG>agA	p.R468R	CYBB_uc011mkf.1_Silent_p.R436R|CYBB_uc011mkg.1_Silent_p.R201R	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	468					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TGCAGGAAAGGAACAATGCCG	0.522000														14			7		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154542962	154542962	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:154542962G>A	uc010ipp.3	+	27	3872	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K	KIAA0922_uc003inm.4_Missense_Mutation_p.E1273K|KIAA0922_uc010ipq.3_Missense_Mutation_p.E1042K	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1273						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGCAGATGCCGAAATTGCAAG	0.448000														33			14		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043304	56043304	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:56043304G>A	uc001nio.1	+	0	190	c.190G>A	c.(190-192)Gat>Aat	p.D64N		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GATCATTGGGGATTTCTGGCT	0.353000														49			8		0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91163358	91163358	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:91163358C>T	uc001kgi.3	+	1	1474	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Silent_p.L442L|IFIT1_uc001kgj.3_Silent_p.L411L	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	442					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTTGAGCCTCCTTGGGTTCG	0.428000														30			13		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023615	18023615	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:18023615C>T	uc021trm.1	+	0	1720	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L	MYO15A_uc021trl.1_Silent_p.L501L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	501	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCACCCTCTCTGGACATTCC	0.637000														45			10		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39068779	39068779	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:39068779C>T	uc003xmt.4	+	11	1414	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	390					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P389P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAAAAATCTCCGAAACCAGTC	0.358000														5			7		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103558700	103558700	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:103558700C>T	uc001ktv.2	-	8	2151	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Missense_Mutation_p.E517K|MGEA5_uc009xws.2_Missense_Mutation_p.E517K|MGEA5_uc001ktw.2_Missense_Mutation_p.E570K|MGEA5_uc009xwt.2_Missense_Mutation_p.E333K	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	570					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GGTCCATGCTCGTAAGGAAGG	0.448000														34			22		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943077	144943078	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:144943077_144943078CC>TT	uc003zaa.1	-	0	4357_4358	c.4344_4345GG>AA	c.(4342-4347)gtggct>gtAAct	p.A1449T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1449						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCTCAGAGCCACCGCGGTGT	0.614000														29			19		0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3105746	3105746	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:3105746C>T	uc010jni.3	+	8	1269	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	RIPK1_uc003muv.4_Missense_Mutation_p.S183F|RIPK1_uc003mux.3_Missense_Mutation_p.S346F|RIPK1_uc011dhs.2_Missense_Mutation_p.S300F	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	346	Interaction with SQSTM1.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|positive regulation of interleukin-8 production|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTGCACAGTTCCCAGGGACTT	0.483000														210			64		0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161332149	161332149	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:161332149C>T	uc001gag.3	+	5	466	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	SDHC_uc001gah.3_Missense_Mutation_p.P112S|SDHC_uc001gai.3_Missense_Mutation_p.S91F|SDHC_uc001gaj.3_Missense_Mutation_p.P93S|SDHC_uc001gak.3_Missense_Mutation_p.S57F	NM_003001	NP_002992	Q99643	C560_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	146					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CCTGAAGATTCCCCAGCTATA	0.448000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome					19			4		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572237	140572237	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140572237G>A	uc003lix.3	+	0	286	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	38	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGACTGAGGAAACAGAGAA	0.498000														89			29		0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158531	58158532	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:58158531_58158532CC>TT	uc001sqc.1	-	2	768_769	c.609_610GG>AA	c.(607-612)gaggtt>gaAAtt	p.V204I	CYP27B1_uc001spz.1_Intron|CYP27B1_uc001sqa.1_Intron|CYP27B1_uc001sqb.1_Intron			O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	0					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GGAGGGAGAACCTCACCGTGTC	0.599000														33			19		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101821823	101821823	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:101821823G>A	uc003uys.4	+	10	1063	c.936G>A	c.(934-936)caG>caA	p.Q312Q	CUX1_uc003uyw.3_Silent_p.Q266Q|CUX1_uc003uyv.3_Silent_p.Q296Q|CUX1_uc003uyt.3_Silent_p.Q312Q|CUX1_uc003uyu.3_Silent_p.Q310Q|CUX1_uc011kkn.2_Silent_p.Q273Q|CUX1_uc003uyx.4_Silent_p.Q301Q	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	301					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGATCGCACAGCTGGTGGAGG	0.597000														10			5		0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962836	55962836	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:55962836G>A	uc002ivd.1	-	1	809	c.90C>T	c.(88-90)ccC>ccT	p.P30P	CUEDC1_uc002ive.1_Silent_p.P30P	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	30										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGAGCTCCTggggggcggccg	0.706000														25			10		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738074	19738074	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:19738074G>A	uc003sup.1	-	3	903	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	294	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CACTGCCTTGGAAAACAGGGT	0.423000														231			77		0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	649640	649640	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:649640G>A	uc002frs.1	-	1	1762	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	548					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCGGGCCACGGAGGCCACAGC	0.547000														30			17		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54685258	54685258	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:54685258G>A	uc021smr.1	+	15	4720	c.4720G>A	c.(4720-4722)Gat>Aat	p.D1574N	UNC13C_uc021sms.1_Missense_Mutation_p.D1576N|UNC13C_uc002acl.3_Missense_Mutation_p.D406N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1576					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)		TAAGAAACAGGATATTCCTCG	0.378000														62			14		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682287	69682287	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:69682287G>A	uc003hee.3	+	0	575	c.550G>A	c.(550-552)Gga>Aga	p.G184R	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	184					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G184A(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAGGCACAGTGGAGGATTTAT	0.413000														88			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208808	140208808	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140208808G>A	uc003lho.2	+	0	1159	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.D378N|PCDHAC2_uc011dab.2_Missense_Mutation_p.D378N	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	393	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACCTCGATTCAGGTGC	0.517000														147			53		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736629	141736629	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:141736629G>A	uc003vwy.3	+	17	2137	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	695	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGGACCAGGATCCTGCCTC	0.483000														175			62		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32085698	32085698	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:32085698G>A	uc003nzn.3	-	11	1395	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_Silent_p.L27L|ATF6B_uc003nzo.3_Silent_p.L451L|ATF6B_uc003nzp.1_Silent_p.L143L	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	454					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGGACCCCTGGAGAGGTTCAA	0.627000														11			4		0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173794477	173794477	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:173794477C>T	uc001gjh.2	+	0	681	c.110C>T	c.(109-111)tCa>tTa	p.S37L	CENPL_uc001gje.4_5'Flank|CENPL_uc001gjg.4_5'Flank|CENPL_uc001gjf.4_5'Flank	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA.	37					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	ATP binding|aspartate-tRNA ligase activity|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTGCAGAGTTCACAGAGGAGA	0.458000														57			15		0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830500	38830500	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:38830500G>A	uc010ifg.2	-	1	716	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	TLR6_uc003gtm.3_Missense_Mutation_p.L199F	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	199					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAAGGTGAAGGGTTTTTGCA	0.303000														18			5		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145616925	145616925	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:145616925C>T	uc003lnz.4	+	7	1375	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	RBM27_uc003lny.2_Silent_p.P403P	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	403	Pro-rich.				mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCAGTGCCCAATCTTGCAT	0.428000														63			30		0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38700891	38700891	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:38700891C>T	uc010lwp.3	+	10	2585	c.2206C>T	c.(2206-2208)Cac>Tac	p.H736Y	TACC1_uc003xma.3_Missense_Mutation_p.H174Y|TACC1_uc003xmb.4_Missense_Mutation_p.H662Y|TACC1_uc003xlz.3_Missense_Mutation_p.H541Y|TACC1_uc003xmc.4_Missense_Mutation_p.H540Y|TACC1_uc011lbz.2_Missense_Mutation_p.H723Y|TACC1_uc003xmf.4_Missense_Mutation_p.H326Y|TACC1_uc011lca.2_Missense_Mutation_p.H719Y|TACC1_uc011lcb.2_Missense_Mutation_p.H512Y|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Missense_Mutation_p.H553Y|TACC1_uc010lwq.3_Missense_Mutation_p.H552Y	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	736	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTGAAAATCCACGCAGAAGA	0.403000														75			46		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134256013	134256013	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:134256013C>T	uc003eqo.1	+	6	907	c.458C>T	c.(457-459)tCg>tTg	p.S153L	CEP63_uc003eql.1_Missense_Mutation_p.S153L|CEP63_uc003eqm.3_Missense_Mutation_p.S153L|CEP63_uc003eqn.1_Missense_Mutation_p.S153L	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	153					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.S153L(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGTCAGAAATCGCTGGACTGG	0.438000														64			22		0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454678	6454678	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:6454678T>A	uc002mex.1	-	4	676	c.534A>T	c.(532-534)caA>caT	p.Q178H	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_5'UTR	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	178					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TCAGCTTCTCTTGCTTTGAGA	0.612000														38			11		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133226278	133226278	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:133226278G>A	uc001uks.1	-	29	3824	c.3780C>T	c.(3778-3780)gcC>gcT	p.A1260A	POLE_uc001ukr.1_Silent_p.A64A|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A1233A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1260					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGTTCCCAGGGCGGGAGGCT	0.622000								DNA polymerases (catalytic subunits)						104			56		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358171	66358171	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:66358171G>A	uc001oiq.4	-	0	2384	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	772										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTTCCTGTGGAGATGGCTTC	0.507000														118			47		0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61627444	61627444	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:61627444A>G	uc010dqj.3	+	3	424	c.275A>G	c.(274-276)gAc>gGc	p.D92G	SERPINB8_uc002ljs.1_5'Flank	NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	92						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						AAACAGCTAGACTTTGTGAAT	0.333000														40			5		0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891908	45891909	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:45891908_45891909CC>TT	uc010rgn.2	+	8	1459_1460	c.1437_1438CC>TT	c.(1435-1440)ttcccc>ttTTcc	p.P480S	CRY2_uc009ykw.3_Missense_Mutation_p.P398S|CRY2_uc010rgo.2_Missense_Mutation_p.P202S	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	459	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGAAAGCGTTCCCCTCTCGATA	0.525000														48			7		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123537	140123537	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:140123537C>T	uc003etn.3	+	3	756	c.566C>T	c.(565-567)tCc>tTc	p.S189F	CLSTN2_uc003etm.2_Missense_Mutation_p.S189F	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	189	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.S189Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGGACTGCTCCCCACAGTAC	0.537000										HNSCC(16;0.037)				63			8		0	0	1	0	0
C17orf67	339210	broad.mit.edu	37	17	54892244	54892244	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:54892244C>T	uc010dci.3	-	1	342	c.214G>A	c.(214-216)Gat>Aat	p.D72N	C17orf67_uc002iuq.3_Non-coding_Transcript	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA.	72						extracellular region		p.P71P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					ATTGGCTCATCGGGGAATCCG	0.498000														367			123		0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54371833	54371833	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:54371833G>A	uc021onq.1	+	2	570	c.547G>A	c.(547-549)Gca>Aca	p.A183T	DIO1_uc021onp.1_Missense_Mutation_p.A119T|DIO1_uc009vzl.3_Intron|DIO1_uc001cwb.3_Missense_Mutation_p.A135T|DIO1_uc021onr.1_Intron|DIO1_uc001cwd.3_Non-coding_Transcript|DIO1_uc001cwe.3_Non-coding_Transcript|DIO1_uc001cwf.3_Non-coding_Transcript|DIO1_uc001cwg.3_Intron	NM_000792	NP_001034804	P49895	IOD1_HUMAN	Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA.	183					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TCGCCTGCAGGCAGCCCATCT	0.572000														36			10		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979887	89979887	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:89979887G>A	uc003kju.3	+	27	6245	c.6149G>A	c.(6148-6150)gGa>gAa	p.G2050E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2050	Calx-beta 14.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCTTTTTGGAGCTAATCAG	0.383000														59			19		0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36353427	36353427	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:36353427G>A	uc003omb.3	-	1	285	c.26C>T	c.(25-27)tCt>tTt	p.S9F	ETV7_uc003olz.2_Missense_Mutation_p.S9F|ETV7_uc003oma.2_Missense_Mutation_p.S9F|ETV7_uc003omc.3_Missense_Mutation_p.S9F|ETV7_uc010jwj.3_5'UTR|ETV7_uc010jwi.3_Missense_Mutation_p.S9F|ETV7_uc010jwh.3_Intron|ETV7_uc011dtl.2_Intron	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	9					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCTTATAGGAGAAATAGCCAA	0.483000														51			9		0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186272751	186272751	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:186272751C>T	uc003ixh.3	+	13	2151	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	SNX25_uc010ish.3_Intron|SNX25_uc003ixi.3_Silent_p.F158F	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	654					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GCGACTTCTTCTCCCACCAGG	0.458000														38			10		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69970275	69970276	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:69970275_69970276GG>AA	uc002exu.1	+	19	2126_2127	c.2037_2038GG>AA	c.(2035-2040)ctgggc>ctAAgc	p.G680S	WWP2_uc002exv.1_Missense_Mutation_p.G680S|WWP2_uc010vlm.1_Missense_Mutation_p.G564S|WWP2_uc010vln.1_Missense_Mutation_p.G298S|WWP2_uc002exw.1_Missense_Mutation_p.G241S	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	680	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGAGATACTGGGCAAGGTGAC	0.584000														34			21		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48246517	48246517	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:48246517G>A	uc002iqi.3	+	5	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	SGCA_uc010wmh.1_Missense_Mutation_p.D115N|SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	217					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GGCATCCCCCGATAGCCACGC	0.572000											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			15		0	0	1	0	0
RBP7	116362	broad.mit.edu	37	1	10067711	10067711	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:10067711C>T	uc001aqq.3	+	1	219	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	RBP7_uc009vms.3_Non-coding_Transcript	NM_052960	NP_443192	Q96R05	RET7_HUMAN	Homo sapiens retinol binding protein 7, cellular (RBP7), mRNA.	53						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TTTTACCATCCACACGAACAG	0.373000														28			11		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187540610	187540610	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:187540610C>T	uc002upq.3	+	27	3160	c.2884C>T	c.(2884-2886)Cct>Tct	p.P962S	ITGAV_uc010frs.3_Missense_Mutation_p.P926S|ITGAV_uc010zfv.2_Missense_Mutation_p.P916S	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	962					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CATAGAGTTTCCTTATAAGAA	0.318000														31			5		0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524201	108524201	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:108524201G>A	uc003vfo.3	-	1	259	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	71						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						ATCATGTGACGATATTGAGCT	0.418000														48			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584104	179584104	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:179584104C>T	uc021vsy.1	-	79	20506	c.20281G>A	c.(20281-20283)Gag>Aag	p.E6761K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3422K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7688	Ig-like 49.						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)			ACTCGGCACTCCAAAACAACT	0.512000														78			29		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172750362	172750362	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:172750362G>A	uc003mco.1	-	2	1676	c.366C>T	c.(364-366)agC>agT	p.S122S	STC2_uc003mcn.1_Silent_p.S37S	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	122					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCACTTCCGGCTTATGCAGC	0.602000														31			5		0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38792678	38792678	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:38792678T>C	uc002hux.2	-	5	462	c.338A>G	c.(337-339)cAa>cGa	p.Q113R	SMARCE1_uc010wff.1_Missense_Mutation_p.Q78R|SMARCE1_uc010wfg.1_Missense_Mutation_p.Q43R|SMARCE1_uc002huy.2_Missense_Mutation_p.Q78R|SMARCE1_uc010wfh.1_Missense_Mutation_p.Q43R|SMARCE1_uc010wfi.1_Missense_Mutation_p.Q95R|SMARCE1_uc010wfj.1_Missense_Mutation_p.Q95R	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.	113					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nuclear chromosome|transcriptional repressor complex	DNA binding|N-acetyltransferase activity|chromatin binding|protein N-terminus binding|protein binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TAAATATTCTTGTTTTTCTTC	0.403000														106			39		0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31231755	31231755	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:31231755T>C	uc001utc.2	+	8	1973	c.1541T>C	c.(1540-1542)cTt>cCt	p.L514P	USPL1_uc001utd.2_Missense_Mutation_p.L185P|USPL1_uc001ute.1_Missense_Mutation_p.L185P	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	514					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TGCCTTCCACTTAAAAAGACT	0.408000														75			43		0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179137274	179137274	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:179137274G>A	uc003fjv.4	-	3	396	c.116C>T	c.(115-117)tCt>tTt	p.S39F	GNB4_uc003fju.4_5'Flank	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	39					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TCGACCCACAGAGTCCATATT	0.383000														76			14		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78202095	78202095	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:78202095G>A	uc001vki.3	+	27	1812	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	SCEL_uc010thx.2_Missense_Mutation_p.E506K|SCEL_uc001vkj.3_Missense_Mutation_p.E528K	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	548	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CCAGAACCTGGAAAATTTAAT	0.249000														23			10		0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14645905	14645906	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:14645905_14645906GG>AA	uc010uzd.2	-	20	1598_1599	c.1452_1453CC>TT	c.(1450-1455)tccctt>tcTTtt	p.L485F	PARN_uc010uzc.2_Missense_Mutation_p.L424F|PARN_uc010uze.2_Missense_Mutation_p.L439F|PARN_uc010uzf.2_Missense_Mutation_p.L310F	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	485					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGCTGGCTAAGGGAAACAAATG	0.396000														142			21		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138698539	138698539	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:138698539C>T	uc011mwn.1	-	11	1534	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	MCF2_uc004fav.3_Missense_Mutation_p.D365N|MCF2_uc004fau.3_Missense_Mutation_p.D365N|MCF2_uc010nsh.2_Missense_Mutation_p.D365N|MCF2_uc011mwm.2_Missense_Mutation_p.D326N|MCF2_uc011mwl.2_Missense_Mutation_p.D326N|MCF2_uc011mwo.1_Missense_Mutation_p.D425N|MCF2_uc004faw.2_Missense_Mutation_p.D425N	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	365	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTTCAATGTCTTGGAGAGCT	0.363000														25			18		0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110009485	110009485	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:110009485G>A	uc001tou.3	-	1	238	c.165C>T	c.(163-165)atC>atT	p.I55I	MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_5'UTR|MVK_uc001toy.4_5'Flank|MVK_uc009zvk.3_5'Flank|MVK_uc010sxr.2_5'Flank|MVK_uc001toz.4_5'Flank	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	55					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATCTTGGGGATCCTGGGTG	0.463000														34			4		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99440126	99440126	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:99440126G>A	uc002bul.3	+	3	1144	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	IGF1R_uc010urq.2_Missense_Mutation_p.R365Q|IGF1R_uc010bon.3_Missense_Mutation_p.R365Q|IGF1R_uc021sxi.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	365					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.I364M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATTAACATCCGACGGGGGAGT	0.443000														38			15		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677766	37677766	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:37677766A>G	uc002ofq.3	-	4	925	c.673T>C	c.(673-675)Tat>Cat	p.Y225H	ZNF585B_uc002ofr.1_Missense_Mutation_p.Y39H	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGAGTTATAAGGGAAACCT	0.388000														50			17		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531822	140531822	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:140531822G>A	uc003lir.3	+	0	1984	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	662	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.D662Y(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGGTGGACGGCTTCTC	0.692000														64			18		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22555198	22555198	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:22555198C>T	uc021rpr.1	+	0	272	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc001wcz.1_Silent_p.S108S					RecName: Full=T-cell receptor alpha chain C region;																		TCATGGATTCCCAGCCTGGAG	0.488000														13			3		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672684	113672684	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:113672684C>T	uc003eau.3	+	2	598	c.299C>T	c.(298-300)cCt>cTt	p.P100L	ZDHHC23_uc003eav.3_Missense_Mutation_p.P94L	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	100						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTCCTGCTGCCTGTCTTCCTT	0.512000														149			41		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30892226	30892226	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:30892226C>T	uc011dmz.2	+	25	2733	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	VARS2_uc003nsc.2_Silent_p.A854A|VARS2_uc011dmx.2_Silent_p.A854A|VARS2_uc011dmy.2_Silent_p.A714A|VARS2_uc011dna.2_Silent_p.A852A|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Silent_p.A292A|VARS2_uc010jsg.2_Silent_p.A226A|VARS2_uc010jsh.2_5'UTR	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	854					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCCTCCTGGCCCCACTGATGC	0.716000														42			15		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236283	33236283	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:33236283C>T	uc001bvu.1	+	5	1547	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	KIAA1522_uc010ohm.1_Silent_p.P453P|KIAA1522_uc001bvv.2_Silent_p.P442P|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	442	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CACCCCCTCCCCGCCGGACCC	0.652000														15			7		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78395051	78395051	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:78395051C>T	uc001dic.4	+	8	1212	c.915C>T	c.(913-915)taC>taT	p.Y305Y	NEXN_uc001dia.3_Silent_p.Y291Y|NEXN_uc009wcb.1_Silent_p.Y227Y|NEXN_uc001dib.4_Silent_p.Y241Y|NEXN_uc001did.1_Silent_p.Y215Y|NEXN_uc001dif.1_Silent_p.Y197Y	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	305	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TTAAAGGGTACCGCCCTGGTA	0.358000														25			4		0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72076812	72076812	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:72076812C>T	uc001dfw.3	-	4	913	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	NEGR1_uc001dfv.3_Missense_Mutation_p.E101K|NEGR1_uc010oqs.2_Missense_Mutation_p.E185K	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	229	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GATTTAATTTCCTGAATAGTA	0.403000														52			15		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122677396	122677396	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:122677396C>T	uc009zxm.3	+	6	1219	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	LRRC43_uc001ubw.4_Silent_p.V213V|LRRC43_uc009zxn.3_Silent_p.V159V	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	398	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTGAAGAGGTCGAAGGGTCTC	0.532000														29			14		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539825	56539825	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:56539825G>A	uc002qmj.3	+	6	2226	c.2226G>A	c.(2224-2226)ggG>ggA	p.G742G	NLRP5_uc002qmi.3_Silent_p.G723G	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	742						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATGTCAAAGGGATCTTCCCAA	0.517000														157			34		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875847	42875847	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:42875847C>T	uc001uys.2	+	7	3140	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	989					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCCCAAATTTCCTGACTCTCA	0.403000														48			4		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907280	16907280	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:16907280G>A	uc009vos.1	-	15	2439	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Silent_p.S246S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	517	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCATGAGAGGATTCTCTGT	0.453000														843			34		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243690	10243690	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:10243690C>T	uc002gmk.1	-	16	2013	c.1923G>A	c.(1921-1923)ggG>ggA	p.G641G		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	641	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.G640G(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTCTTCTTCCCGCCCTTCT	0.552000														41			9		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2405425	2405425	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:2405425G>A	uc010xgx.2	+	5	622	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	TMPRSS9_uc002lvv.1_Missense_Mutation_p.E242K	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	208	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGGCATGGAAGCATCCCC	0.637000														71			20		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27130471	27130471	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:27130471C>T	uc002ylx.4	+	5	854	c.704C>T	c.(703-705)cCt>cTt	p.P235L	GABPA_uc002yly.4_Missense_Mutation_p.P235L	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	235	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAGCGGGTTCCTCGGGGAGAA	0.368000														49			13		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21646062	21646062	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:21646062G>A	uc003svc.3	+	18	3698	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1223	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAAAGATGGGAAACTACCAA	0.363000									Kartagener syndrome					10			4		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927401	55927401	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:55927401G>A	uc010rja.2	-	0	393	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAACATAATAGAGCAGAGGGT	0.413000														71			23		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245141	100245141	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:100245141C>T	uc003uvy.3	-	7	792	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	229					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGGGGCACCCTCCCGGACA	0.602000														67			15		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:55932118C>T	uc003pcs.3	-	22	2334	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_uc010jzz.3_Missense_Mutation_p.G86E|COL21A1_uc011dxg.2_Intron|COL21A1_uc011dxh.2_Missense_Mutation_p.G86E|COL21A1_uc003pcr.3_Missense_Mutation_p.E59K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	701	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTTGATTTCCTTTGTCCCC	0.299000														33			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049206	9049206	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9049206G>A	uc002mkp.3	-	4	32629	c.32425C>T	c.(32425-32427)Cga>Tga	p.R10809*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10811	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAGAGCTCGATTAGTTGTA	0.498000														100			31		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748139	41748139	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:41748139C>T	uc003gwf.4	-	2	990	c.630G>A	c.(628-630)gcG>gcA	p.A210A		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	210					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A210V(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						cgccTCCATTCGCCCCGCAGC	0.756000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					69			18		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141468629	141468629	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:141468629T>A	uc003yvh.2	-	0	50	c.35A>T	c.(34-36)cAc>cTc	p.H12L	TRAPPC9_uc003yvj.2_5'Flank	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	0					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTTCCCCCTGTGTGGCGCGCG	0.687000														19			5		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096991	53096991	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:53096991C>T	uc001saw.3	-	0	257	c.228G>A	c.(226-228)ggG>ggA	p.G76G	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	76	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGGTGCTCCTCCCCATTAGAT	0.587000														27			7		0	0	1	0	0
REEP4	80346	broad.mit.edu	37	8	21996206	21996206	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:21996206G>A	uc003xau.1	-	6	1107	c.654C>T	c.(652-654)ccC>ccT	p.P218P	REEP4_uc010ltt.1_Missense_Mutation_p.P173L	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	Homo sapiens receptor accessory protein 4 (REEP4), mRNA.	218						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TGCGGATTAGGGGCTTCTCTC	0.687000														138			18		0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772065	109772065	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:109772065C>T	uc001dwu.2	+	3	418	c.318C>T	c.(316-318)gtC>gtT	p.V106V		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	106					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TCAAAAAAGTCCGACTCCTCA	0.502000														198			48		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940758	144940758	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:144940758C>T	uc003zaa.1	-	0	6677	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2222						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGGTGCCCTCCAGGTAG	0.647000														170			29		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959855	102959855	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:102959855G>A	uc002tbu.1	+	7	1221	c.950G>A	c.(949-951)aGa>aAa	p.R317K	IL1RL1_uc010ywa.2_Missense_Mutation_p.R200K|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.R317K	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	317	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CACACCGTAAGACTAAGTAGG	0.433000														84			31		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97839129	97839129	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:97839129C>T	uc001drv.3	-	15	2183	c.2046G>A	c.(2044-2046)ctG>ctA	p.L682L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	682					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCCCACAGGCCAGGCCCATTC	0.458000														37			9		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588450	93588450	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:93588450G>A	uc010urc.2	-	3	1386	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	RGMA_uc002bsq.2_Silent_p.A361A|RGMA_uc021svs.1_Silent_p.A361A|RGMA_uc021svt.1_Silent_p.A361A|RGMA_uc010boi.2_Silent_p.A268A|RGMA_uc002bsr.2_Silent_p.A268A|RGMA_uc021svu.1_Silent_p.A361A|RGMA_uc002bss.2_Silent_p.A377A	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	377					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGAAGACGCAGGCCTGGTAGT	0.612000														12			8		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166929186	166929186	+	Missense_Mutation	SNP	G	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:166929186G>C	uc003irh.2	+	6	1550	c.903G>C	c.(901-903)agG>agC	p.R301S	TLL1_uc021xud.1_Missense_Mutation_p.R301S|TLL1_uc011cjn.2_Missense_Mutation_p.R301S|TLL1_uc011cjo.2_Missense_Mutation_p.R125S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	301	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACTATGCCAGGAACACCTTCT	0.418000														62			7		0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51509961	51509961	+	Silent	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51509961A>T	uc002pux.1	-	2	306	c.219T>A	c.(217-219)ctT>ctA	p.L73L	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Silent_p.L44L|KLK8_uc002puv.1_5'Flank	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	73	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGTGCTCTCCAAGGCGGACCC	0.592000														20			6		0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94597	94597	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:94597C>T	uc001ifi.2	-	2	235	c.235G>A	c.(235-237)Ggg>Agg	p.G79R		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	79					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CCGAAGGGCCCCGAGCGCACA	0.672000														55			22		0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51483677	51483677	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51483677C>T	uc002puo.3	-	3	390	c.288G>A	c.(286-288)tcG>tcA	p.S96S	KLK7_uc002pup.3_Silent_p.S96S|KLK7_uc021uyj.1_Silent_p.S89S|KLK7_uc010eok.3_Silent_p.S24S	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	96	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GGAATGACTTCGAGGCCTTGA	0.552000														38			11		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256815	89256815	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:89256815G>A	uc002fmt.3	+	7	1220	c.1143G>A	c.(1141-1143)cgG>cgA	p.R381R		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	381	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.R381Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ACCCACTTCGGACCAGCCTAG	0.682000														12			6		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430375	78430375	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:78430375G>A	uc001dii.3	-	9	882	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.R286W	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	265					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TACTCATTCCGAACTTCTCTG	0.348000			"""F, N"""		oligodendroglioma									115			30		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212525	62212525	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:62212525G>A	uc003xuh.3	+	1	463	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CLVS1_uc003xug.2_Missense_Mutation_p.D47N|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	47					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGAAAACCCCGATGTTTTACA	0.448000														48			11		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216990	4216990	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:4216990C>T	uc010dtt.1	+	17	2109	c.1833C>T	c.(1831-1833)acC>acT	p.T611T	ANKRD24_uc002lzs.2_Silent_p.T582T|ANKRD24_uc002lzt.2_Silent_p.T583T	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	611										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAATGGAGACCACAGAAGAAG	0.582000														16			17		0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166218843	166218843	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:166218843G>A	uc003irb.3	+	6	996	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	KLHL2_uc011cjm.2_Missense_Mutation_p.R250Q|KLHL2_uc003irc.3_Missense_Mutation_p.R158Q|KLHL2_uc010ira.3_5'UTR	NM_007246	NP_001154994	O95198	KLHL2_HUMAN	Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA.	246					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GAACATGTACGGTTACCTTTG	0.428000														41			15		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802347	24802347	+	Missense_Mutation	SNP	C	T	T	rs35474263	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:24802347C>T	uc002dmm.3	+	5	2498	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	TNRC6A_uc010bxs.3_Missense_Mutation_p.S542F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S542F|TNRC6A_uc002dmn.3_Missense_Mutation_p.S542F|TNRC6A_uc002dmo.3_Missense_Mutation_p.S542F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	795	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGGGAGATTCCAAAGGCTCA	0.512000														27			11		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94109937	94109937	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:94109937G>A	uc001ybv.1	+	32	5673	c.5590G>A	c.(5590-5592)Gat>Aat	p.D1864N	UNC79_uc001ybs.1_Missense_Mutation_p.D1842N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2019						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAAGAATACGATGAAGAGAC	0.468000														49			20		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15655085	15655085	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:15655085G>A	uc002nbh.4	+	9	1298	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	377						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TGGAGGAGCTGGAGTGGTGag	0.542000														27			4		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910588	35910588	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:35910588C>T	uc003jjt.1	-	2	290	c.195G>A	c.(193-195)atG>atA	p.M65I	CAPSL_uc003jju.1_Missense_Mutation_p.M65I	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	65	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTAACCCTTTCATAAATTCTT	0.318000														56			13		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38192009	38192010	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:38192009_38192010GC>TT	uc002hts.3	-	3	566_567	c.366_367GC>AA	c.(364-369)ttgctg>ttAAtg	p.L123M	MED24_uc010wes.2_5'Flank|MED24_uc010wet.2_Non-coding_Transcript|MED24_uc002htt.3_Missense_Mutation_p.L98M|MED24_uc002htu.3_Missense_Mutation_p.L85M|MED24_uc010cwn.3_Missense_Mutation_p.L85M|MED24_uc010weu.2_Intron|MED24_uc010wev.1_Missense_Mutation_p.L48M|MED24_uc010wew.1_Missense_Mutation_p.L27M|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.L48M|MED24_uc010wfb.1_Missense_Mutation_p.L110M|MED24_uc010wfc.1_Missense_Mutation_p.L35M	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	98					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ATGATGTCCAGCAATGCCTGGA	0.530000														35			10		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139906029	139906029	+	Splice_Site	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:139906029G>A	uc003lfs.2	+	26	5094	c.4940_splice	c.e26+1	p.R1647_splice	ANKHD1-EIF4EBP3_uc003lfr.3_Splice_Site_p.R1647_splice|ANKHD1-EIF4EBP3_uc011czh.1_Splice_Site_p.R386_splice|ANKHD1-EIF4EBP3_uc003lfw.3_Splice_Site_p.R285_splice|ANKHD1-EIF4EBP3_uc010jfl.3_Splice_Site_p.R82_splice|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1647						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGACACGGTAAATTTTTC	0.363000														42			13		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021881	34021881	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:34021881C>T	uc002xcj.3	+	1	367	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	GDF5_uc010gfc.1_Silent_p.T444T|GDF5_uc002xck.1_Silent_p.T444T					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						CTGCATGATTCGTGGGCTCCA	0.612000														29			12		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100076681	100076681	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:100076681G>A	uc011lut.2	+	19	2021	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	C9orf174_uc004axe.2_Missense_Mutation_p.E339K|C9orf174_uc011lus.2_Intron|C9orf174_uc004axg.2_Missense_Mutation_p.E200K|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.E200K|C9orf174_uc011luv.1_Missense_Mutation_p.E197K	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	339						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GCAGGAAATGGAACCTCTCAT	0.522000														36			18		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958199	143958199	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:143958199G>A	uc010mey.3	-	5	918	c.911C>T	c.(910-912)tCc>tTc	p.S304F	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.S233F|CYP11B1_uc003yxj.3_Missense_Mutation_p.S233F	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	233					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTGGACGGTGGATTTGAACAT	0.587000									Familial Hyperaldosteronism type I					32			11		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051787	132051787	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:132051787C>T	uc003ytd.4	-	0	1049	c.793G>A	c.(793-795)Ggg>Agg	p.G265R	ADCY8_uc010mds.3_Missense_Mutation_p.G265R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	265					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAGGAGCCCGTAGCCGAGG	0.667000										HNSCC(32;0.087)				41			7		0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96674610	96674610	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:96674610G>A	uc001tep.2	-	15	2142	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	CDK17_uc009ztk.3_Nonsense_Mutation_p.R504*|CDK17_uc010svb.2_Nonsense_Mutation_p.R451*	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	504							ATP binding|cyclin-dependent protein kinase activity	p.R504*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GAAGAATTTCGAAAACCCGGG	0.343000														20			5		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48624931	48624932	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:48624931_48624932CC>TT	uc003ctz.2	-	21	2914_2915	c.2913_2914GG>AA	c.(2911-2916)tcggtg>tcAAtg	p.V972M		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	972	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCAAAGTCACCGAGTCGATCG	0.579000														42			11		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	980798	980798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:980798C>T	uc001ack.2	+	13	2481	c.2431C>T	c.(2431-2433)Cag>Tag	p.Q811*		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	811	Laminin EGF-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGCCACAGGCCAGTGCTCCTG	0.667000														33			6		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377320	18377320	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:18377320G>A	uc010ebn.2	-	2	1246	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	KIAA1683_uc002nin.2_Missense_Mutation_p.P344S|KIAA1683_uc010xqe.1_Missense_Mutation_p.P298S	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	344	Thr-rich.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GAGACCACTGGATATGTCTGG	0.552000														53			14		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137813998	137813998	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:137813998G>A	uc002tva.1	+	1	55	c.55G>A	c.(55-57)Gga>Aga	p.G19R	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGTCCGTGGGGAAGGTGTAC	0.473000														40			11		0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204714	27204714	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:27204714G>A	uc003syt.3	-	0	436	c.363C>T	c.(361-363)ttC>ttT	p.F121F	HOXA9_uc022aar.1_Intron	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	121							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GCAAGCCCGCGAAGGAGAGCG	0.682000			T	"""NUP98, MSI2"""	AML*									23			5		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634223	70634223	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:70634223C>T	uc001xly.3	-	1	1671	c.917G>A	c.(916-918)gGg>gAg	p.G306E	SLC8A3_uc001xlw.3_Missense_Mutation_p.G306E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G306E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G306E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	306					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACTTCCTTCCCTTCCAGGGG	0.493000														52			14		0	0	1	0	0
TRDV3	28516	broad.mit.edu	37	14	22938294	22938294	+	Missense_Mutation	SNP	T	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:22938294T>G	uc001web.1	-	1	132	c.80A>C	c.(79-81)gAc>gCc	p.D27A	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Intron					SubName: Full=HDV103S1; Flags: Fragment;																		CACCGTCTGGTCCGGGGAACT	0.498000														17			7		0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100572932	100572932	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:100572932C>T	uc001dsu.3	-	10	1465	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	SASS6_uc009wdz.3_Missense_Mutation_p.E275K	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	442					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTAACTACCTCTTGCTCTTTA	0.289000														22			3		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804350	27804351	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:27804350_27804351CC>GT	uc002rkz.4	+	0	4962_4963	c.4911_4912CC>GT	c.(4909-4914)agccat>agGTat	p.1637_1638SH>RY	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1637	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTCAGAGGAGCCATCGCGGTCC	0.574000														140			34		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343356	72343356	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:72343356C>T	uc002llw.2	+	0	434	c.381C>T	c.(379-381)ctC>ctT	p.L127L	ZNF407_uc010xfc.2_Silent_p.L127L|ZNF407_uc010dqu.2_Silent_p.L127L|ZNF407_uc002llu.2_Silent_p.L126L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCACATGTCTCCCAAATGCCC	0.443000														51			11		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140113	50140113	+	Nonsense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:50140113G>A	uc002xwd.3	-	1	887	c.667C>T	c.(667-669)Cga>Tga	p.R223*	NFATC2_uc002xwc.3_Nonsense_Mutation_p.R223*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R4*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R4*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R203*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R203*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R4*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R4*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	223	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGCTGGTTCGAGGTGACATT	0.647000														159			44		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120744192	120744192	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:120744192G>A	uc003you.3	-	25	3842	c.3572C>T	c.(3571-3573)tCt>tTt	p.S1191F		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	1191					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGAACGAATAGACCTGCCACT	0.428000														55			47		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78346416	78346417	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:78346416_78346417GG>AA	uc002bcy.4	-	1	473_474	c.473_474CC>TT	c.(472-474)ccc>cTT	p.P158L	TBC1D2B_uc010bla.3_Missense_Mutation_p.P158L	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	158						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GAAAATCCCCGGGAGTTGGAGA	0.470000														94			43		0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690397	106690397	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:106690397C>T	uc010fjf.3	+	2	291	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	61						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CCAAAGAATTCCTTGGCAGCC	0.517000														121			41		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65631190	65631190	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:65631190C>T	uc001ofv.4	+	8	1312	c.959C>T	c.(958-960)cCa>cTa	p.P320L	MUS81_uc001ofx.4_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	320	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCTAGAGACCCAGGTGAAGGG	0.632000								Homologous recombination						56			19		0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49712680	49712680	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:49712680C>T	uc010hkw.1	+	2	610	c.210C>T	c.(208-210)ttC>ttT	p.F70F	APEH_uc003cxf.3_Silent_p.F70F	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	70					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCTGGTGTTCCATGACGGGG	0.577000														24			5		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43674281	43674281	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:43674281C>T	uc002ovu.3	-	4	1105	c.974G>A	c.(973-975)gGa>gAa	p.G325E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G325E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	325					female pregnancy	extracellular region		p.G325*(1)|p.S324L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACGTCCTATTCCTGAAGGAGC	0.438000														78			27		0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118253383	118253383	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:118253383C>T	uc001psw.3	+	12	2224	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	UBE4A_uc001psv.3_Missense_Mutation_p.P704S	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	697					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GACCCCAAATCCCTTGGTATC	0.498000														112			35		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81666380	81666380	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:81666380G>A	uc021ssk.1	-	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I	TMC3_uc021ssj.1_Silent_p.I13I|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.I13I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	13						integral to membrane		p.G12G(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CATTTCTCCGGATGCCTCTAT	0.552000														32			7		0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210766	37210766	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:37210766C>T	uc010xtl.2	+	5	1362	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	ZNF567_uc002oeo.1_Silent_p.L380L|ZNF567_uc010xtk.1_Silent_p.L380L|ZNF567_uc002oep.4_Silent_p.L349L|ZNF567_uc002oeq.1_Silent_p.L349L	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGACAACACTCTCTCTACATC	0.438000														63			9		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18625312	18625312	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr18:18625312G>A	uc002kte.3	-	4	1472	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	177	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGCAGTATAGAATCGTGCCC	0.378000														30			9		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7402801	7402801	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7402801C>T	uc002ghf.4	+	9	2048	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	POLR2A_uc002ghe.3_Silent_p.F554F	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	554					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGACGTCTTCCTGGAGCGGG	0.542000														31			11		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022473	51022473	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:51022473C>T	uc002pss.3	-	2	634	c.497G>A	c.(496-498)cGg>cAg	p.R166Q		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	166						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGGGTTGTTCCGCAGCCAGAG	0.647000														66			21		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18393642	18393642	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:18393642C>T	uc003cbh.3	-	9	3356	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SATB1_uc003cbi.3_Missense_Mutation_p.E541K|SATB1_uc003cbj.3_Missense_Mutation_p.E541K	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	541					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTTCTGTTTTCTGGAGAAGGA	0.502000														51			11		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796267	69796267	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:69796267G>A	uc003hef.2	-	4	1332	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	434						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACTTACGAGGAATCGGTAAT	0.378000														88			21		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777489	43777489	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:43777489C>T	uc010skx.2	-	30	4669	c.4669G>A	c.(4669-4671)Gag>Aag	p.E1557K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1557	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTGTGCACTCCATTCGTTGA	0.338000														14			4		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45487419	45487419	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:45487419G>A	uc001jbp.3	+	8	2516	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	RASSF4_uc001jbo.3_Missense_Mutation_p.E292K|RASSF4_uc009xmn.3_Missense_Mutation_p.E222K|RASSF4_uc001jbq.3_Missense_Mutation_p.E189K|RASSF4_uc001jbt.3_Missense_Mutation_p.E249K			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	292					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAAGAAGAGGAAGAAAGAGA	0.398000														26			7		0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46671807	46671807	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:46671807G>A	uc001nda.3	+	5	1026	c.398G>A	c.(397-399)aGg>aAg	p.R133K	ATG13_uc009yld.3_Missense_Mutation_p.R133K|ATG13_uc001ndb.3_Missense_Mutation_p.R133K|ATG13_uc001ncz.3_Missense_Mutation_p.R133K|ATG13_uc001ndc.3_Missense_Mutation_p.R133K|ATG13_uc010rgv.2_Missense_Mutation_p.R54K	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	133					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCTATAACTAGGGTGACACCA	0.428000														76			15		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937378	21937378	+	RNA	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:21937378C>T	uc010tzj.1	-	0		c.3362G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCAATTTTTTCATATCTTGTA	0.363000														172			5		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771389	118771389	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:118771389G>A	uc001pug.3	-	5	4028	c.3063C>T	c.(3061-3063)tcC>tcT	p.S1021S	BCL9L_uc009zal.3_Silent_p.S1016S	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1021	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTTGTTCTGGGAGACCCCCG	0.632000														124			30		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276531	47276531	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:47276531C>T	uc001cqn.4	+	1	316	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.P78S|CYP4B1_uc009vym.3_Missense_Mutation_p.P78S|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'Flank	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	78					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCACCAGTTCCCGTATGCCCA	0.552000														34			14		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166454	180166454	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:180166454C>T	uc003mmf.1	-	0	605	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACTATGACTCGGGCCACAAA	0.517000														76			18		0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347219	31347219	+	Missense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:31347219T>A	uc001bse.2	-	3	1134	c.1087A>T	c.(1087-1089)Aat>Tat	p.N363Y	SDC3_uc001bsd.2_Missense_Mutation_p.N305Y	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	363						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TCGATGGCATTGTCCAGGAGG	0.652000														33			16		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182947467	182947467	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:182947467C>T	uc003fli.1	-	16	2122	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	MCF2L2_uc003flj.1_Missense_Mutation_p.E678K|MCF2L2_uc011bqr.1_Non-coding_Transcript	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	678	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.E678K(2)|p.Y677*(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGTGAAATTCGTAAAGTTCT	0.328000														66			14		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586685	33586685	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:33586685C>T	uc002xbi.2	+	34	4600	c.4283C>T	c.(4282-4284)gCc>gTc	p.A1428V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1386						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAAGCAGATGCCATCCAGAGG	0.637000														28			5		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656535	12656535	+	Nonsense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:12656535A>T	uc002gno.2	+	9	2229	c.1930A>T	c.(1930-1932)Aaa>Taa	p.K644*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.K644*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.K548*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.K363*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	644					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.V643M(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGGGGCTGTGAAAAGCCCACA	0.562000														89			30		0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3284163	3284163	+	Silent	SNP	G	A	A	rs114978759	byFrequency	TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:3284163G>A	uc003mvm.3	-	8	1626	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	AK096219_uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Silent_p.I261I|SLC22A23_uc003mvo.3_Silent_p.I261I|SLC22A23_uc003mvp.1_Non-coding_Transcript|SLC22A23_uc010jnn.3_Silent_p.I542I	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	542					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ACATGCCCACGATGGAAAACG	0.582000														28			8		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360998	42360998	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:42360998A>T	uc001wvm.3	+	3	3129	c.1931A>T	c.(1930-1932)aAa>aTa	p.K644I	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	644						integral to membrane		p.Q643K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAAAAGCAGAAAAGAAAGACT	0.453000										HNSCC(30;0.082)				26			8		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909622	123909622	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:123909622G>A	uc001pzq.1	-	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I28V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAACCACCAGGAAGATTCCAA	0.562000														80			9		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563351	75563351	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:75563351G>A	uc002fej.1	-	4	1271	c.950C>T	c.(949-951)gCc>gTc	p.A317V	CHST5_uc002fei.3_Missense_Mutation_p.A311V|CHST5_uc021tlk.1_Missense_Mutation_p.A311V	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	311					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCGGTGAAGGCGTAGAGTGC	0.677000														93			56		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609706	84609706	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:84609706G>A	uc004amn.3	+	3	4368	c.4321G>A	c.(4321-4323)Gct>Act	p.A1441T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1441						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GCTTGGGAAAGCTCAGCACAA	0.552000														23			10		0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139180953	139180954	+	Splice_Site	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:139180953_139180954CC>TT	uc003eth.3	-	2	303	c.252_splice	c.e2+1	p.K84_splice		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	84					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CCGGTCAGTACCTTAACATGCC	0.426000														55			18		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158165144	158165144	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:158165144C>T	uc002tzg.3	+	8	2841	c.2586C>T	c.(2584-2586)atC>atT	p.I862I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	862	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAGCCCCCATCCCTGATAAAG	0.418000														134			43		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827783	72827783	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:72827783G>A	uc002fck.3	-	8	9471	c.8798C>T	c.(8797-8799)tCt>tTt	p.S2933F	ZFHX3_uc002fcl.3_Missense_Mutation_p.S2019F	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2933					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTGCCTGCAGATCCACTCGC	0.498000														32			22		0	0	1	0	0
RAB30	27314	broad.mit.edu	37	11	82698774	82698775	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:82698774_82698775CC>TT	uc001ozu.3	-	4	476_477	c.215_216GG>AA	c.(214-216)cgg>cAA	p.R72Q	RAB30_uc009yve.3_Missense_Mutation_p.R70Q|RAB30_uc010rst.2_Missense_Mutation_p.R72Q|RAB30_uc001ozv.3_Missense_Mutation_p.R70Q|RAB30_uc009yvg.1_Missense_Mutation_p.R42Q	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	72					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGGTAATGGACCGAAATCTCTC	0.465000														60			11		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040176	31040176	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:31040176C>T	uc002nsu.1	+	3	3788	c.3650C>T	c.(3649-3651)cCc>cTc	p.P1217L	ZNF536_uc010edd.1_Missense_Mutation_p.P1217L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1216K(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)					ACCTCCCAGCCCGTCCAGGGA	0.627000														47			14		0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210370	228210370	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:228210370C>T	uc001hrp.2	+	1	181	c.74C>T	c.(73-75)tCg>tTg	p.S25L	WNT3A_uc001hrq.2_Missense_Mutation_p.S25L	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	25					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTCTGCAGGTCGCTGGCTGTT	0.637000														51			16		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267028	72267028	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:72267028T>C	uc003xyu.3	-	2	753	c.113A>G	c.(112-114)aAt>aGt	p.N38S	EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Missense_Mutation_p.N38S|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.N38S|EYA1_uc011lfe.2_Missense_Mutation_p.N38S|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	38					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCGGTGCCATTGGGAGTCAT	0.443000														103			73		0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3562479	3562479	+	Splice_Site	SNP	G	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:3562479G>T	uc002cvk.1	+	5	600	c.495_splice	c.e5+1	p.R165_splice	CLUAP1_uc002cvj.1_Splice_Site_p.R165_splice|CLUAP1_uc002cvm.1_Intron	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN	Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.	165						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AGAGTTGAGGGTAAGCATTCC	0.423000														35			8		0.0381472	0.0383265	1	1	0
LYST	1130	broad.mit.edu	37	1	235969138	235969138	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:235969138G>A	uc001hxj.2	-	5	3473	c.3298C>T	c.(3298-3300)Ctt>Ttt	p.L1100F	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.L1100F	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1100					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.S1099*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATACTTTGAAGTGAGGTCTCA	0.418000														44			13		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47338945	47338945	+	RNA	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:47338945C>T	uc001cqo.1	-	6		c.888G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TCCAGAAAATCCTGGCGTCTT	0.368000														20			3		0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44218815	44218815	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:44218815A>T	uc003oxa.1	+	6	1072	c.988A>T	c.(988-990)Agg>Tgg	p.R330W	HSP90AB1_uc011dvr.1_Missense_Mutation_p.R320W|HSP90AB1_uc003oxb.1_Missense_Mutation_p.R330W|HSP90AB1_uc011dvs.1_Missense_Mutation_p.R150W|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	330					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTGGAATTCAGGGCATTGCT	0.393000														92			18		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82402461	82402461	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:82402461C>T	uc001dit.4	+	4	518	c.337C>T	c.(337-339)Cct>Tct	p.P113S	LPHN2_uc001dis.3_Missense_Mutation_p.P113S|LPHN2_uc001diu.3_Missense_Mutation_p.P113S|LPHN2_uc001div.3_Missense_Mutation_p.P113S|LPHN2_uc009wcd.3_Missense_Mutation_p.P113S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	113	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGATGTGTTTCCTGATCCATG	0.338000														62			14		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558548	129558548	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:129558548C>T	uc009zyl.1	-	8	3500	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K	TMEM132D_uc001uia.2_Missense_Mutation_p.E596K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1058						integral to membrane		p.D1057N(1)|p.D1057E(1)		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)		GTGGGGTACTCGTCGTCTGAG	0.512000														82			26		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328270	243328270	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:243328270C>T	uc021plo.1	-	12	3400	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	CEP170_uc021plp.1_Missense_Mutation_p.D900N|CEP170_uc021plq.1_Missense_Mutation_p.D900N|CEP170_uc001hzv.1_Missense_Mutation_p.D376N	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	998	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAACCCACATCTGTGGAACGA	0.413000														57			4		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400323	85400323	+	Missense_Mutation	SNP	A	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:85400323A>G	uc002ble.3	+	5	3127	c.2960A>G	c.(2959-2961)aAc>aGc	p.N987S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	987					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTCCAGGAACCATGAGCAA	0.547000														101			18		0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99938561	99938561	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:99938561G>A	uc002szz.3	-	3	611	c.420C>T	c.(418-420)atC>atT	p.I140I	MRPL30_uc002szl.1_Intron|TXNDC9_uc010yvp.1_Silent_p.I157I|TXNDC9_uc002taa.1_Silent_p.I140I	NM_005783	NP_005774	O14530	TXND9_HUMAN	Homo sapiens thioredoxin domain containing 9 (TXNDC9), mRNA.	140	Thioredoxin.				cell redox homeostasis		protein binding			lung(1)	1						GAATGACTTTGATATGCAGTC	0.398000														72			20		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51766660	51766660	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:51766660G>A	uc010ufy.2	-	27	7319	c.7094C>T	c.(7093-7095)tCc>tTc	p.S2365F	DMXL2_uc002abd.3_Missense_Mutation_p.S435F|DMXL2_uc002abf.3_Missense_Mutation_p.S2364F|DMXL2_uc010bfa.3_Missense_Mutation_p.S1728F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2364						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTCACTGGAGGAATTTGTGGC	0.418000														22			13		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65423339	65423339	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:65423339C>T	uc011moz.2	+	12	2510	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	HEPH_uc004dwn.3_Silent_p.I740I|HEPH_uc004dwo.3_Silent_p.I470I|HEPH_uc010nkr.3_Silent_p.I548I|HEPH_uc011mpa.2_Silent_p.I740I|HEPH_uc010nks.3_Silent_p.I29I	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	737	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTACTATATCATGGCAGAAG	0.522000														5			8		0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12128746	12128746	+	Nonsense_Mutation	SNP	T	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:12128746T>A	uc002msy.1	-	2	316	c.145A>T	c.(145-147)Aaa>Taa	p.K49*	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Nonsense_Mutation_p.K14*	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGTTTCCATTTTTTCCCTACA	0.333000														24			8		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156845885	156845885	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:156845885C>T	uc001fqh.1	+	12	1571	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	NTRK1_uc001fqf.1_Silent_p.I469I|NTRK1_uc009wsi.1_Silent_p.I204I|NTRK1_uc001fqi.1_Silent_p.I499I|NTRK1_uc009wsk.1_Silent_p.I502I	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	505					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TTCACCACATCAAGCGCCGGG	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				96			22		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155526015	155526015	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:155526015C>T	uc003ioj.3	-	8	1474	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	FGG_uc003iog.3_Intron	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	445					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAAAGTGAGTCATATTCTGTT	0.428000														95			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086857	9086857	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:9086857C>T	uc002mkp.3	-	0	5162	c.4958G>A	c.(4957-4959)gGa>gAa	p.G1653E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1653	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGATGTTCCTATGGGAAG	0.512000														69			23		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497532	31497532	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:31497532G>A	uc002ecf.4	+	4	529	c.510G>A	c.(508-510)ctG>ctA	p.L170L	SLC5A2_uc010car.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	170					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						AGCAGGCTCTGGGCTGGAACA	0.602000														62			20		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70178155	70178156	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:70178155_70178156GG>AA	uc001opo.3	+	8	1382_1383	c.1167_1168GG>AA	c.(1165-1170)ccggag>ccAAag	p.E390K	PPFIA1_uc001opn.2_Missense_Mutation_p.E390K|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	390					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGACGCTCCCGGAGGTGGAGGC	0.559000														120			34		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91653042	91653042	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:91653042C>T	uc004aqf.2	-	10	1829	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	508	SH2.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCCTCTGCCTCCTTCCTGCTC	0.597000														197			69		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19246247	19246247	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:19246247G>A	uc001mpm.3	-	12	3084	c.2562C>T	c.(2560-2562)gtC>gtT	p.V854V	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Silent_p.V854V	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	854					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCGCTGTGGGACAAAGAGAG	0.418000														52			16		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457501	27457501	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:27457501C>T	uc003xfy.2	-	6	1140	c.993G>A	c.(991-993)caG>caA	p.Q331Q	CLU_uc003xfw.2_Silent_p.Q320Q|CLU_uc003xfx.2_Silent_p.Q320Q|CLU_uc003xfz.2_Silent_p.Q320Q	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	320					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GCAGCTTAGCCTGGGAGGGGT	0.527000														34			4		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152686	149152686	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:149152686G>A	uc003wfv.3	-	1	591	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AACTGTTGGGGAAAGGGTCAG	0.587000														209			58		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1204859	1204859	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:1204859C>T	uc002qwq.3	+	8	791	c.662C>T	c.(661-663)tCc>tTc	p.S221F	SNTG2_uc010ewi.3_Missense_Mutation_p.S94F	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	221					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GACACCTTGTCCGTGCCTCTG	0.527000														101			35		0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3182321	3182321	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:3182321C>T	uc003bpp.4	+	3	572	c.470C>T	c.(469-471)tCt>tTt	p.S157F	TRNT1_uc010hbv.3_Missense_Mutation_p.S157F|TRNT1_uc003bpm.2_Non-coding_Transcript	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA.	157					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ACTATAAATTCTATGTTTTTA	0.368000														27			8		0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249151675	249151675	+	Missense_Mutation	SNP	T	C	C			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:249151675T>C	uc001ifc.2	-	3	444	c.233A>G	c.(232-234)aAa>aGa	p.K78R	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Missense_Mutation_p.K83R|ZNF692_uc001iff.2_Missense_Mutation_p.K78R	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTGCAGACCTTTTGGAGGCAA	0.637000														47			9		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179587748	179587748	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:179587748C>T	uc010pnp.2	+	4	1364	c.846C>T	c.(844-846)ttC>ttT	p.F282F	TDRD5_uc021pfm.1_Silent_p.F282F|TDRD5_uc001gnf.2_Silent_p.F282F|TDRD5_uc021pfn.1_Silent_p.F282F|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	282					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGAACACATTCAAATCAGTTA	0.333000														32			9		0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772143	109772144	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:109772143_109772144CC>TT	uc001dwu.2	+	3	496_497	c.396_397CC>TT	c.(394-399)ctccga>ctTTga	p.R133*		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	133					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity	p.R133Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TTGAGAACCTCCGAGAGATTGG	0.525000														146			43		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137196	121137196	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr3:121137196C>T	uc003eec.4	+	26	3451	c.3311C>T	c.(3310-3312)tCg>tTg	p.S1104L	STXBP5L_uc011bji.2_Missense_Mutation_p.S1080L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1104					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)		GGGGAAGCTTCGGCAGGAAAA	0.458000														20			3		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40118553	40118553	+	Silent	SNP	G	A	A	rs149970572		TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:40118553G>A	uc002xka.1	-	11	1723	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	CHD6_uc002xkd.2_Silent_p.I493I	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	515	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.I515I(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGAGAGGGGCGATAATGAGAA	0.502000														66			26		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63666288	63666288	+	Nonsense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:63666288C>T	uc001nxw.3	+	5	1036	c.457C>T	c.(457-459)Cga>Tga	p.R153*	MARK2_uc001nxv.4_Nonsense_Mutation_p.R153*|MARK2_uc001nxx.3_Nonsense_Mutation_p.R153*|MARK2_uc001nxy.3_Nonsense_Mutation_p.R153*|MARK2_uc001nxz.4_Nonsense_Mutation_p.R120*|MARK2_uc009yoy.3_Nonsense_Mutation_p.R120*	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	153	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAAGAGGCTCGAGCCAAATT	0.517000														38			17		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640051	57640051	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:57640051C>T	uc002qny.3	+	3	364	c.8C>T	c.(7-9)tCt>tTt	p.S3F	USP29_uc021vci.1_Missense_Mutation_p.S3F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	3					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.I2L(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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;0.026)		AGGATGATATCTCTAAAGGTA	0.333000														20			3		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316828	45316828	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:45316828G>A	uc002ozu.3	+	5	779	c.735G>A	c.(733-735)gaG>gaA	p.E245E	BCAM_uc002ozt.1_Silent_p.E245E	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	245	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCCTGCCCGAGGGCCGCCACG	0.672000														110			27		0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131128387	131128387	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:131128387C>T	uc011kpm.2	+	10	1385	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	MKLN1_uc011kpl.2_Missense_Mutation_p.L418F|MKLN1_uc010lmh.2_Missense_Mutation_p.L441F|MKLN1_uc003vqs.3_Missense_Mutation_p.L234F	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	441					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTGGAAACTTCTTCGAGAGGA	0.448000														44			18		0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160589593	160589593	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:160589593C>T	uc001fwl.4	-	4	1183	c.837G>A	c.(835-837)acG>acA	p.T279T	SLAMF1_uc010pjk.2_Intron|SLAMF1_uc010pjl.2_Intron|SLAMF1_uc010pjm.2_Intron	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	279					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.T279K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGCATAGATCGTAAGGCTTT	0.443000														126			26		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19127496	19127496	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:19127496G>A	uc002zou.3	-	3	479	c.442C>T	c.(442-444)Cta>Tta	p.L148L		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	148					nervous system development	catalytic step 2 spliceosome		p.S147I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AAGACATCTAGGCTGGGCAGC	0.607000														97			32		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948580	7948580	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:7948580C>T	uc002gju.3	+	6	990	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	ALOX15B_uc002gjv.3_Missense_Mutation_p.H292Y|ALOX15B_uc002gjw.3_Missense_Mutation_p.H292Y|ALOX15B_uc010vun.2_Missense_Mutation_p.H292Y|ALOX15B_uc010cnp.3_Missense_Mutation_p.H98Y	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	292	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTTGGTGGATCACGGCATCCT	0.557000														88			28		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997400	115997400	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr4:115997400C>T	uc003ibu.3	-	1	1472	c.793G>A	c.(793-795)Gga>Aga	p.G265R	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	265	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTCTGAATTCCATCATGAAGC	0.433000														93			33		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51207706	51207706	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:51207706C>T	uc001zyx.2	+	2	391	c.284C>T	c.(283-285)tCc>tTc	p.S95F	AP4E1_uc021skz.1_Missense_Mutation_p.S20F|AP4E1_uc010ufi.2_Missense_Mutation_p.S95F|AP4E1_uc010ufj.2_Non-coding_Transcript|AP4E1_uc010ufk.2_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	95					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TATGATGCTTCCTTTGGCTAT	0.333000														39			7		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40665946	40665947	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr17:40665946_40665947CC>TT	uc002hzs.3	+	18	2368_2369	c.2201_2202CC>TT	c.(2200-2202)tcc>tTT	p.S734F	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.S733F|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.S727F|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.S690F|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.S684F|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.S379F|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.S592F|ATP6V0A1_uc002hzt.3_Missense_Mutation_p.S17F	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	733					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGCTGCATCTCCAACACTGCCT	0.589000														132			36		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226939	149226939	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:149226939C>T	uc002twm.4	+	8	2424	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	476						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATGATGCCACCTGTAGGACCC	0.507000														32			6		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211931	72211931	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:72211931C>T	uc003xyu.3	-	7	1221	c.581G>A	c.(580-582)gGa>gAa	p.G194E	EYA1_uc003xyt.4_Missense_Mutation_p.G161E|EYA1_uc003xyr.4_Missense_Mutation_p.G189E|EYA1_uc010lzf.3_Missense_Mutation_p.G121E|EYA1_uc003xys.4_Missense_Mutation_p.G194E|EYA1_uc011lfe.2_Missense_Mutation_p.G188E|EYA1_uc003xyv.3_Missense_Mutation_p.G72E	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	194					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G194R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTATATATTCCTGATGATGT	0.303000														83			19		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	347135	347135	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:347135C>T	uc001qic.2	-	4	610	c.520G>A	c.(520-522)Ggt>Agt	p.G174S	SLC6A13_uc009zdj.2_Missense_Mutation_p.G174S|SLC6A13_uc010sdl.2_Missense_Mutation_p.G82S|SLC6A13_uc010sdm.1_Missense_Mutation_p.G55S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	174					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAGAGGTACCATTCAGGGAG	0.522000														40			12		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806165	26806165	+	Missense_Mutation	SNP	A	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr15:26806165A>T	uc001zbb.3	-	8	1265	c.1162T>A	c.(1162-1164)Ttt>Att	p.F388I	GABRB3_uc021sgg.1_Missense_Mutation_p.F261I|GABRB3_uc021sgh.1_Missense_Mutation_p.F247I|GABRB3_uc001zaz.3_Missense_Mutation_p.F332I|GABRB3_uc001zba.3_Missense_Mutation_p.F332I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	332					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.D387N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTCTTCCAAAGAAAATGTAG	0.483000														63			11		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68028917	68028917	+	Missense_Mutation	SNP	C	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr14:68028917C>A	uc001xjl.1	+	6	711	c.569C>A	c.(568-570)tCt>tAt	p.S190Y		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	190						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GAGCAGGATTCTGTCCCTTCA	0.592000														13			3		0.150653	0.151077	1	1	0
UBXN4	23190	broad.mit.edu	37	2	136537915	136537915	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:136537915G>A	uc002tur.3	+	11	1659	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	UBXN4_uc002tus.3_Missense_Mutation_p.E216K|UBXN4_uc002tut.3_Missense_Mutation_p.E86K	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	450					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACATCGTCAGAACCCCCAAA	0.388000														73			23		0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35207254	35207254	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:35207254C>T	uc021wcv.1	+	1	291	c.77C>T	c.(76-78)cCc>cTc	p.P26L	TGIF2_uc021wcu.1_Missense_Mutation_p.P26L|TGIF2_uc002xfn.3_Missense_Mutation_p.P26L|TGIF2_uc021wcw.1_Missense_Mutation_p.P26L|TGIF2_uc002xfo.3_Missense_Mutation_p.P26L	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	26						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGAACCTGCCCAAGGAGTCG	0.612000														76			24		0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75695626	75695626	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:75695626C>T	uc003ueo.3	+	8	1001	c.915C>T	c.(913-915)atC>atT	p.I305I	MDH2_uc011kgh.2_Silent_p.I263I|MDH2_uc003uep.3_Silent_p.I198I	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	305					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	ACCTGGGCATCGGCAAAGTCT	0.498000														62			15		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31187623	31187623	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:31187623G>A	uc004dda.1	-	73	10734	c.10490C>T	c.(10489-10491)tCc>tTc	p.S3497F	DMD_uc004dcq.1_Missense_Mutation_p.S768F|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Missense_Mutation_p.S1037F|DMD_uc004dcu.1_Missense_Mutation_p.S1037F|DMD_uc004dcv.1_Missense_Mutation_p.S1024F|DMD_uc004dcw.2_Missense_Mutation_p.S2153F|DMD_uc004dcx.2_Missense_Mutation_p.S2156F|DMD_uc004dcz.2_Missense_Mutation_p.S3374F|DMD_uc004dcy.1_Missense_Mutation_p.S3493F|DMD_uc004ddb.1_Missense_Mutation_p.S3489F|DMD_uc004dcp.1_Missense_Mutation_p.S416F|DMD_uc011mkb.1_Intron|DMD_uc004dcm.1_Missense_Mutation_p.S429F|DMD_uc004dcn.1_Missense_Mutation_p.S416F|DMD_uc004dco.1_Missense_Mutation_p.S429F	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3497	Binds to SNTB1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTCTCTAAGGAAATCAAGAT	0.458000														10			6		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862765	84862765	+	Missense_Mutation	SNP	C	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:84862765C>G	uc010kbp.3	-	22	3225	c.3128G>C	c.(3127-3129)aGa>aCa	p.R1043T	KIAA1009_uc003pkj.4_Missense_Mutation_p.R967T|KIAA1009_uc003pki.4_Missense_Mutation_p.R429T	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1043					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCAAGGTTTCTTACAGTGAT	0.378000														10			7		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864570	30864571	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr22:30864570_30864571GG>AA	uc003ahy.3	-	4	436_437	c.347_348CC>TT	c.(346-348)acc>aTT	p.T116I	SEC14L3_uc003ahz.3_Missense_Mutation_p.T39I|SEC14L3_uc003aia.3_Missense_Mutation_p.T57I|SEC14L3_uc003aib.3_Missense_Mutation_p.T57I	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	116	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GGTCCTGCTTGGTGACTGAGAA	0.589000														46			39		0	0	1	0	0
TSPY2	64591	broad.mit.edu	37	Y	6114317	6114317	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrY:6114317C>T	uc004fqr.1	+	0	54	c.8C>T	c.(7-9)cCt>cTt	p.P3L	TTTY23_uc004fqq.1_5'Flank|TSPY2_uc004fqs.1_Missense_Mutation_p.P3L	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN	Homo sapiens testis specific protein, Y-linked 2 (TSPY2), mRNA.	3					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						CGCATGCGCCCTGAGGGCTCG	0.706000														12			12		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2965313	2965313	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:2965313C>T	uc022aqr.1	-	44	7152	c.6762G>A	c.(6760-6762)caG>caA	p.Q2254Q	CSMD1_uc011kwj.2_Silent_p.Q1647Q|CSMD1_uc010lrg.3_Silent_p.Q323Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2255	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTTCTTGAGCTGAAATGCTA	0.333000														82			19		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91781717	91781717	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr1:91781717C>T	uc001doa.4	-	26	3022	c.2923G>A	c.(2923-2925)Gga>Aga	p.G975R	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.G654R|HFM1_uc001dob.4_Missense_Mutation_p.G163R|HFM1_uc010osv.1_Missense_Mutation_p.G659R	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	975	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCTGGGTTCCAAAGGGGGGA	0.254000														42			9		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165832185	165832185	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr6:165832185G>A	uc003qun.3	-	11	1151	c.906C>T	c.(904-906)gaC>gaT	p.D302D	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Silent_p.D232D|PDE10A_uc003quo.3_Silent_p.D312D	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	302	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.D302E(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TATCAAAAAGGTCTGAATATA	0.388000														27			17		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841815	70841815	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:70841815C>T	uc002ezr.3	-	85	15182	c.15031G>A	c.(15031-15033)Gag>Aag	p.E5011K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5012										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGATATACTCTCCACCTGCG	0.562000														58			22		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133036948	133036948	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:133036948G>A	uc003ytg.2	-	12	1214	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	OC90_uc011lix.1_Missense_Mutation_p.S405F	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	421	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.H404R(1)		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)			TTGGTTAAAGGAGGCAGAGGT	0.602000														28			10		0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79255393	79255393	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:79255393C>T	uc002snw.3	+	5	604	c.519C>T	c.(517-519)ttC>ttT	p.F173F	REG3G_uc002snx.3_Silent_p.F173F|REG3G_uc010ffu.3_Silent_p.F127F	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	173					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTGCAAGTTCAAGGACTAGG	0.478000														57			13		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559458	20559458	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr16:20559458G>A	uc002dhj.4	-	8	1234	c.1024C>T	c.(1024-1026)Ctt>Ttt	p.L342F	ACSM2B_uc002dhk.4_Missense_Mutation_p.L342F|ACSM2B_uc010bwf.1_Missense_Mutation_p.L342F	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	342					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTTCTGGAAGAAGGGACTCC	0.532000														145			61		0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406365	55406365	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:55406365G>A	uc010rij.2	+	0	532	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTACTTCTGTGATGTGTATCC	0.383000														42			12		0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2698040	2698040	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr7:2698040C>T	uc003smp.3	+	11	1558	c.1371C>T	c.(1369-1371)acC>acT	p.T457T	TTYH3_uc010ksn.3_Silent_p.T177T|TTYH3_uc003smq.3_Silent_p.T286T	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	457						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCAGTGAGACCAGCATCCCGG	0.687000														21			5		0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117477006	117477006	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:117477006C>T	uc001twh.3	-	7	741	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.G166R	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	193					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		ATGTCGATCCCCTGCCAGATC	0.632000														15			4		0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114994483	114994483	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:114994483G>A	uc004bfv.3	-	8	1201	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Missense_Mutation_p.P337S|PTBP3_uc004bfw.3_Missense_Mutation_p.P334S|PTBP3_uc011lwu.2_Missense_Mutation_p.P306S|PTBP3_uc004bfz.3_Missense_Mutation_p.P306S|PTBP3_uc004bfy.3_Missense_Mutation_p.P239S	NM_001244898	NP_001231827	O95758	ROD1_HUMAN	Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA.	334					anatomical structure morphogenesis|mRNA processing	nucleus	RNA binding|nucleotide binding										ATTGTGAGAGGACCAAGAGCT	0.408000														24			10		0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36882013	36882013	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:36882013C>T	uc003zzo.1	-	7	1448	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R	PAX5_uc011lpt.1_Missense_Mutation_p.G130R|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Missense_Mutation_p.G291R|PAX5_uc010mlr.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.G291R|PAX5_uc011lqa.1_Missense_Mutation_p.G226R|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Intron|PAX5_uc010mlp.1_Missense_Mutation_p.G334R	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	334					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)|p.T333fs*>59(1)|p.T333fs*?(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGCACCATCCCTGTCAGCGTC	0.667000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									12			7		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532635	71532636	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr9:71532635_71532636GG>AA	uc004agu.3	+	8	1248_1249	c.943_944GG>AA	c.(943-945)ggg>AAg	p.G315K	PIP5K1B_uc011lrq.2_Missense_Mutation_p.G315K|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	315	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCAGGGTCCAGGGAAATCTGGA	0.525000														55			13		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808037	160808037	+	Silent	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:160808037G>A	uc002ube.2	-	23	3566	c.3354C>T	c.(3352-3354)acC>acT	p.T1118T	PLA2R1_uc010zcp.2_Silent_p.T1118T|PLA2R1_uc002ubf.3_Silent_p.T1118T	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1118					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATTCTAAGGTATTGGGCA	0.373000														43			13		0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50367233	50367233	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr19:50367233C>T	uc002pqj.3	-	6	842	c.732G>A	c.(730-732)ggG>ggA	p.G244G	PNKP_uc002pqg.3_Silent_p.G25G|PNKP_uc002pqi.3_Silent_p.G205G|PNKP_uc021uxx.1_Silent_p.G244G	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	244					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGAAGGGGACCCCCAGCTTCT	0.637000								Other BER factors						19			4		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382049	76382049	+	Missense_Mutation	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr13:76382049C>T	uc021rkq.1	+	9	1965	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.P311S|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.P217S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	596						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTCCCTTTTCCCGAACCCTG	0.438000														87			26		0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044427	33044428	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr21:33044427_33044428GG>AA	uc002ypd.2	-	19	3154_3155	c.2728_2729CC>TT	c.(2728-2730)cca>TTa	p.P910L	SCAF4_uc002ype.2_Missense_Mutation_p.P888L|SCAF4_uc010glu.2_Missense_Mutation_p.P895L	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	910						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCCATGCGGTGGGAAGGGACCT	0.668000														48			18		0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44048200	44048200	+	Silent	SNP	C	T	T			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr20:44048200C>T	uc002xoh.2	+	4	741	c.651C>T	c.(649-651)tcC>tcT	p.S217S	PIGT_uc010ghb.2_Silent_p.S207S|PIGT_uc010zwt.2_Non-coding_Transcript|PIGT_uc010ghd.2_Silent_p.S124S|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Silent_p.S180S|PIGT_uc010ghf.2_Silent_p.S170S|PIGT_uc010zwz.2_5'UTR|PIGT_uc010zww.2_Silent_p.S161S|PIGT_uc010zwy.2_Silent_p.S115S|PIGT_uc002xoj.2_Silent_p.S217S|PIGT_uc010zwu.2_5'UTR|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_5'UTR|PIGT_uc010zwx.2_Silent_p.S52S|PIGT_uc010zxa.2_Silent_p.S55S|PIGT_uc002xol.1_Silent_p.S73S|PIGT_uc010zxb.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	217					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCTACCACTCCCAGGCAGTGC	0.542000														110			39		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270762	113270762	+	Missense_Mutation	SNP	G	A	A			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr11:113270762G>A	uc001pny.3	+	7	2165	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	691							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CCGCAACAAGGTGGGCTGGAC	0.632000														66			16		0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175673651	175673655	+	Frame_Shift_Del	DEL	TAGGG	-	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr2:175673651_175673655delTAGGG	uc002uji.3	-	10	1421_1425	c.1080_1084delCCCTA	c.(1078-1086)taccctaagfs	p.Y360fs	CHN1_uc010zeq.2_Frame_Shift_Del_p.Y334fs|CHN1_uc002ujj.3_Frame_Shift_Del_p.Y135fs|CHN1_uc002ujg.3_Frame_Shift_Del_p.Y235fs	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	360	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTATAAACTTAGGGTAGGCATCAT	0.366			T	TAF15	extraskeletal myxoid chondrosarcoma								---	211	---	---	28	---					
MAP1B	4131	broad.mit.edu	37	5	71491413	71491415	+	In_Frame_Del	DEL	CTC	-	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr5:71491413_71491415delCTC	uc003kbw.4	+	4	2472_2474	c.2231_2233delCTC	c.(2230-2235)actcct>act	p.P745del	MAP1B_uc010iyw.1_In_Frame_Del_p.P762del|MAP1B_uc010iyx.1_In_Frame_Del_p.P619del|MAP1B_uc010iyy.1_In_Frame_Del_p.P619del	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	745	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAATCATCTACTCCTCTGTCTGA	0.394													---	117	---	---	29	---					
TMEM67	91147	broad.mit.edu	37	8	94811923	94811923	+	Frame_Shift_Del	DEL	T	-	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr8:94811923delT	uc011lgk.2	+	20	2249	c.2178delT	c.(2176-2178)cctfs	p.P726fs	TMEM67_uc010maw.2_Frame_Shift_Del_p.P432fs|TMEM67_uc003yga.4_Frame_Shift_Del_p.P645fs|TMEM67_uc011lgl.2_Frame_Shift_Del_p.P125fs	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	726					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACATAGCTCCTTATAGCTGCA	0.378													---	51	---	---	17	---					
PSD	5662	broad.mit.edu	37	10	104175780	104175781	+	Frame_Shift_Ins	INS	-	G	G			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr10:104175780_104175781insG	uc001kvg.1	-	2	1277_1278	c.750_751insC	c.(748-753)cccagcfs	p.P250fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Ins_p.P250fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	250					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTACCTGAGCTGGGGGGGTCCA	0.604													---	6	---	---	6	---					
TULP3	7289	broad.mit.edu	37	12	3040231	3040231	+	Frame_Shift_Del	DEL	C	-	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chr12:3040231delC	uc001qlj.2	+	5	602	c.521delC	c.(520-522)gccfs	p.A174fs	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Frame_Shift_Del_p.A174fs|TULP3_uc010sei.1_Frame_Shift_Del_p.A31fs	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	174				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCTGCTACTGCCGCCCAACCA	0.488													---	123	---	---	19	---					
XIST	7503	broad.mit.edu	37	X	73071650	73071657	+	RNA	DEL	TAAAATGG	-	-			TCGA-RP-A693-06A-13D-A30X-08	TCGA-RP-A693-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e1c5019-5bc6-4f75-aadf-7071035a48e9	ab697ba9-6817-4023-bae3-1c2996cba9da	g.chrX:73071650_73071657delTAAAATGG	uc004ebm.1	-	0		c.932_939delCCATTTTA								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCGGCAAGTCTAAAATGGCGGCCACTTT	0.490													---	38	---	---	19	---