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
GRIA1	2890	broad.mit.edu	37	5	152873538	152873538	+	Missense_Mutation	SNP	G	C	C	rs147434856		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:152873538G>C	uc011dcy.2	+	1	190	c.163G>C	c.(163-165)Gct>Cct	p.A55P	GRIA1_uc003lva.4_Missense_Mutation_p.A45P|GRIA1_uc003luy.4_Missense_Mutation_p.A45P|GRIA1_uc003luz.4_5'UTR|GRIA1_uc011dcv.2_Intron|GRIA1_uc011dcw.2_Missense_Mutation_p.A45P|GRIA1_uc011dcx.2_5'UTR|GRIA1_uc011dcz.2_Missense_Mutation_p.A55P|GRIA1_uc010jia.1_Missense_Mutation_p.A25P	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	45					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|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(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTTAGATTTGCTTTGTCGCA	0.433000														50			44		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81584972	81584972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:81584972C>T	uc021ssh.1	+	10	1597	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.P499L|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.P541L|IL16_uc021ssg.1_Missense_Mutation_p.P499L|IL16_uc002bgg.3_Missense_Mutation_p.P499L|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.3_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	499					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGCACCCCCGCATCGCAGG	0.587000														44			18		0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90764696	90764696	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:90764696C>T	uc002boy.3	+	6	976	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SEMA4B_uc002boz.3_Silent_p.S231S|SEMA4B_uc010uqd.2_Silent_p.S69S|SEMA4B_uc002bpa.3_Silent_p.S69S	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGAGAGCTCCCTCAACTGGC	0.617000											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			3		0	0	1	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220608	146220608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:146220608G>A	uc003zey.3	+	0	358	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		TGAGAGCAAGGAAACAGGGCA	0.408000														158			47		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119469190	119469190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:119469190G>A	uc001ehl.1	-	2	461	c.146C>T	c.(145-147)cCa>cTa	p.P49L		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	155						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCTGATGTGGATCTAGGCC	0.438000														34			30		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044293	94044293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:94044293C>T	uc001ybv.1	+	14	1869	c.1786C>T	c.(1786-1788)Cgt>Tgt	p.R596C	UNC79_uc001ybs.1_Missense_Mutation_p.R596C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	773						integral to membrane		p.R596C(1)		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						TAGTCCGTTTCGTAGCCCTTT	0.433000														99			147		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494606	111494606	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:111494606A>C	uc001eaa.3	-	1	1156	c.900T>G	c.(898-900)ttT>ttG	p.F300L	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAGATGGCGTAAAAGGCTGTA	0.338000														42			31		0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72981320	72981320	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:72981320T>G	uc003xza.3	-	2	557	c.382A>C	c.(382-384)Aac>Cac	p.N128H		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	128						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGTTGAAGTTTCGGAGATTT	0.478000														274			115		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:146829338G>A	uc003weu.2	+	8	1600	c.1084_splice	c.e8-1	p.G362_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)				66			39		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434034	69434034	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:69434034G>A	uc010lyz.3	+	6	1057	c.766_splice	c.e6-1	p.E256_splice	C8orf34_uc010lyy.2_Splice_Site_p.E256_splice|C8orf34_uc003xyb.3_Splice_Site_p.E145_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	170					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTCTTCAGGAAACAGTGAC	0.388000														74			22		0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661598	2661599	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:2661598_2661599CC>TT	uc010ick.3	+	8	1290_1291	c.1289_1290CC>TT	c.(1288-1290)ccc>cTT	p.P430L	FAM193A_uc003gfd.3_Missense_Mutation_p.P230L|FAM193A_uc011bvm.2_Missense_Mutation_p.P254L|FAM193A_uc011bvn.2_Missense_Mutation_p.P230L|FAM193A_uc010icl.3_Missense_Mutation_p.P230L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P84L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	230										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATGGACCCCCCCGTCACTGATG	0.525000														92			78		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348633	10348633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:10348633G>A	uc002gmn.3	-	35	5327	c.5216C>T	c.(5215-5217)tCc>tTc	p.S1739F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1739					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGATTTGGGAAATGTCTGT	0.443000														77			65		0	0	1	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687522	5687522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:5687522C>T	uc002mcp.3	+	5	661	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	HSD11B1L_uc002mck.3_Missense_Mutation_p.P171S|HSD11B1L_uc002mcu.3_Missense_Mutation_p.P37S|HSD11B1L_uc002mcn.3_Missense_Mutation_p.P171S|HSD11B1L_uc002mco.3_Missense_Mutation_p.P84S|HSD11B1L_uc002mcr.3_Missense_Mutation_p.P90S|HSD11B1L_uc002mcq.3_Missense_Mutation_p.P37S|HSD11B1L_uc010dug.3_Missense_Mutation_p.P218S|HSD11B1L_uc002mct.3_Missense_Mutation_p.P37S|HSD11B1L_uc002mcl.3_Missense_Mutation_p.P90S|RPL36_uc002mcv.3_5'Flank|RPL36_uc002mcw.3_5'Flank	NM_198708	NP_941997	Q7Z5J1	DHI1L_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1-like (HSD11B1L), transcript variant d, mRNA.	171						extracellular region	binding|oxidoreductase activity										AGGCCGCGTGCCCACGTCGTT	0.711000														10			4		0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250668	37250668	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:37250668G>A	uc003onn.3	+	4	758	c.612G>A	c.(610-612)agG>agA	p.R204R	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	204						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			ATGAACTGAGGAAGTGTAGCT	0.493000														6			25		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22132418	22132418	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:22132418C>T	uc010vbq.2	+	12	1342	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Silent_p.L403L	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	416						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGTCAATGGTCTGAAAGGTAA	0.507000														58			32		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638258	176638258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:176638258C>T	uc003mfr.4	+	4	2996	c.2858C>T	c.(2857-2859)tCt>tTt	p.S953F	NSD1_uc003mft.4_Missense_Mutation_p.S684F|NSD1_uc003mfs.1_Missense_Mutation_p.S850F|NSD1_uc011dfx.2_Missense_Mutation_p.S601F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	953					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTAGGAGTCTCTAAGGTTTTG	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				15			8		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74365182	74365182	+	Silent	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:74365182A>G	uc011lsa.1	-	1	648	c.108T>C	c.(106-108)cgT>cgC	p.R36R	TMEM2_uc010mos.2_Silent_p.R36R|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	36						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GAGGAGGGGGACGCAATGGGA	0.537000														130			3		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183191251	183191251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:183191251G>A	uc001gqa.2	+	5	982	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	LAMC2_uc001gpz.4_Missense_Mutation_p.R223Q|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	223	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCTGTCCAACGAAATGGGTCT	0.453000														91			64		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	T	T	rs138271368		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:39673185C>T	uc002hwy.3	-	2	804	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(6)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000														46			36		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241991774	241991774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:241991774C>T	uc002wah.1	+	14	1972	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	658	EGF-like 10.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCTGGCAGCCCCCTCCCCCTG	0.657000														22			14		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14775813	14775813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:14775813C>T	uc003ssz.3	-	3	362	c.175G>A	c.(175-177)Gat>Aat	p.D59N	DGKB_uc011jxt.2_Missense_Mutation_p.D52N|DGKB_uc003sta.3_Missense_Mutation_p.D59N|DGKB_uc011jxu.2_Missense_Mutation_p.D59N|DGKB_uc011jxv.1_Missense_Mutation_p.D59N	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	59					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			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)	CCTTCAAAATCTATTGTCTGG	0.338000														17			4		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35748557	35748557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:35748557G>A	uc011axy.2	+	8	990	c.778G>A	c.(778-780)Gat>Aat	p.D260N	ARPP21_uc003cga.3_Missense_Mutation_p.D260N|ARPP21_uc003cgb.3_Missense_Mutation_p.D260N|ARPP21_uc003cgf.3_Missense_Mutation_p.D96N	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	260						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTCTAGTATTGATAAAGAAGA	0.418000														43			33		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588529	72588529	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:72588529A>T	uc002jla.1	+	2	706	c.344A>T	c.(343-345)aAa>aTa	p.K115I	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Missense_Mutation_p.K115I	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	115	Cys-rich.					extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CATTCTTTGAAAAGACTAAGG	0.428000														66			44		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086319	55086319	+	Silent	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:55086319A>C	uc010ern.3	+	4	943	c.474A>C	c.(472-474)ggA>ggC	p.G158G	LILRA1_uc002qgg.4_Silent_p.G158G|LILRA1_uc002qgf.3_Silent_p.G158G|LILRA1_uc010yfe.1_Silent_p.G158G|LILRA1_uc010yff.1_Silent_p.G146G|LILRA1_uc010ero.3_Silent_p.G146G|LILRA1_uc010yfg.1_Silent_p.G158G			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	160	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTAAGGAAGGAGAAGATGAAC	0.597000														78			66		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568831	5568832	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:5568831_5568832GG>AA	uc003sot.4	-	2	407_408	c.323_324CC>TT	c.(322-324)gcc>gTT	p.A108V	ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	108					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTTCAGGGGGGCCTCGGTCAG	0.639000														43			57		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462153	5462153	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:5462153G>A	uc002gci.3	-	3	2418	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	NLRP1_uc002gcg.1_Silent_p.F621F|NLRP1_uc002gch.4_Silent_p.F621F|NLRP1_uc002gck.3_Silent_p.F621F|NLRP1_uc002gcj.3_Silent_p.F621F|NLRP1_uc002gcl.3_Silent_p.F621F|NLRP1_uc010clh.3_Silent_p.F621F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	621	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGAGGTGAATGAAGCTGTAGC	0.458000														25			22		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107148	168107148	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:168107148C>G	uc002udx.3	+	8	9335	c.9246C>G	c.(9244-9246)caC>caG	p.H3082Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H2907Q|XIRP2_uc010fpq.3_Missense_Mutation_p.H2860Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2907					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTACAGCACCAAGTAGCAG	0.348000														19			11		0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35051048	35051048	+	Silent	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:35051048A>G	uc003tem.4	-	4	490	c.345T>C	c.(343-345)agT>agC	p.S115S		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	115						integral to membrane		p.A114S(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCGGTACCAACTGGCCAAAA	0.323000														52			3		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71503549	71503549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:71503549G>A	uc011caw.1	+	7	858	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	193					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)			AATCAGCAATGAAGAAGGGGG	0.423000														84			63		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133963161	133963161	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:133963161G>A	uc004caa.1	+	26	4532	c.4434G>A	c.(4432-4434)ctG>ctA	p.L1478L	LAMC3_uc010mze.1_Silent_p.L166L	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1478	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTATCTCACTGGAGAAGGACA	0.612000														38			25		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371641	31371641	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:31371641T>C	uc002ebt.3	+	7	785	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	ITGAX_uc002ebu.1_Missense_Mutation_p.F240L|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	240	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCACCGATTGTTCCATGCCTC	0.488000														69			44		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38648273	38648273	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:38648273T>C	uc021wvo.1	-	7	1079	c.1027A>G	c.(1027-1029)Aag>Gag	p.K343E	SCN5A_uc021wvk.1_Missense_Mutation_p.K343E|SCN5A_uc021wvl.1_Missense_Mutation_p.K343E|SCN5A_uc021wvm.1_Missense_Mutation_p.K343E|SCN5A_uc021wvn.1_Missense_Mutation_p.K343E|SCN5A_uc021wvp.1_Missense_Mutation_p.K343E|SCN5A_uc021wvq.1_Missense_Mutation_p.K343E|SCN5A_uc021wvr.1_Missense_Mutation_p.K343E|SCN5A_uc021wvs.1_Missense_Mutation_p.K343E|SCN5A_uc021wvt.1_Missense_Mutation_p.K343E|SCN5A_uc021wvu.1_Missense_Mutation_p.K343E|SCN5A_uc021wvv.1_Missense_Mutation_p.K343E|SCN5A_uc021wvj.1_Missense_Mutation_p.K209E|SCN5A_uc021wvi.1_Missense_Mutation_p.K209E|SCN5A_uc021wvw.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	343					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCGCCTGCCTTTAGGCACCGG	0.617000														55			43		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850564	40850564	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:40850564C>T	uc002law.3	-	3	1389	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Silent_p.K322K	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	340	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GAGTCTTCTTCTTGGAGATTC	0.428000														52			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434590	179434590	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:179434590G>A	uc021vsy.1	-	274	68790	c.68565C>T	c.(68563-68565)ttC>ttT	p.F22855F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F16550F|TTN_uc021vta.1_Silent_p.F16483F|TTN_uc021vtb.1_Silent_p.F16358F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23782	Ig-like 117.						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)			TCCAAGAAAGGAATACTGAAG	0.413000														25			25		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653276	1653276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:1653276G>A	uc002qxa.3	-	16	2340	c.2276C>T	c.(2275-2277)tCg>tTg	p.S759L		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	759					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGCGGTCAGCGAGGCGCCCCA	0.627000														106			53		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57859426	57859426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:57859426C>T	uc001snx.3	+	5	665	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	GLI1_uc021qzi.1_Missense_Mutation_p.R150W|GLI1_uc009zpq.3_Missense_Mutation_p.R63W	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	191					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGCAAGTGCCGGGAGGAACC	0.552000														22			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725437	106725437	+	RNA	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:106725437G>A	uc021ser.1	-	927		c.22075C>T								Parts of antibodies, mostly variable regions.																		GCACAGGAGAGTCTCAGGGAC	0.577000														157			67		0	0	1	0	0
ABR	29	broad.mit.edu	37	17	975870	975870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:975870G>A	uc002fsd.3	-	7	988	c.878C>T	c.(877-879)aCa>aTa	p.T293I	ABR_uc002fse.3_Missense_Mutation_p.T247I|ABR_uc010vqg.2_Missense_Mutation_p.T75I|ABR_uc002fsg.3_Missense_Mutation_p.T256I|ABR_uc002fsh.1_Missense_Mutation_p.T177I	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	293					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTTGGGCGTTGTCACTGCAGT	0.657000														15			11		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180056804	180056804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:180056804C>T	uc001gnt.3	+	31	6760	c.6377C>T	c.(6376-6378)tCc>tTc	p.S2126F	CEP350_uc009wxl.2_Missense_Mutation_p.S2125F|CEP350_uc001gnv.3_Missense_Mutation_p.S261F|CEP350_uc001gnw.1_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2126						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAACGCTCTCCTCAGCTTCT	0.378000														6			4		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598433	151598433	+	Silent	SNP	C	T	T	rs145165680		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:151598433C>T	uc003ezf.2	+	2	207	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGATTGAGTTCGTTGTGGGAG	0.423000														115			72		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45014787	45014787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:45014787G>A	uc003tmh.2	-	4	748	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	MYO1G_uc003tmg.2_5'UTR|MYO1G_uc010kym.2_Missense_Mutation_p.H87Y|MYO1G_uc003tmi.1_Missense_Mutation_p.H114Y|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	202	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TAGAAGGCGTGGAAGTTTCTT	0.592000														355			128		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22089526	22089526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:22089526G>A	uc001rfh.3	-	0	103	c.83C>T	c.(82-84)gCc>gTc	p.A28V	ABCC9_uc001rfi.1_Missense_Mutation_p.A28V|ABCC9_uc001rfk.3_Missense_Mutation_p.A28V|ABCC9_uc001rfl.1_Missense_Mutation_p.A28V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	28					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGTTGAGGGCATCCACAAA	0.323000														27			25		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779095	140779095	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140779095C>T	uc003lkf.2	+	0	1401	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I467I	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	473	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCTCCATCGCGCAAGTCT	0.567000														28			23		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95654216	95654216	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:95654216G>A	uc003ygq.4	+	1	348	c.165G>A	c.(163-165)ccG>ccA	p.P55P	ESRP1_uc003ygr.4_Silent_p.P55P|ESRP1_uc003ygs.4_Silent_p.P55P|ESRP1_uc003ygt.4_Silent_p.P55P|ESRP1_uc003ygu.4_Silent_p.P55P|LOC100288748_uc022ayh.1_5'Flank	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	55					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TAGTTAGACCGGATCAGTTGG	0.552000														78			22		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46490500	46490500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:46490500C>T	uc003cpq.3	-	8	1307	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	LTF_uc003fzr.3_Missense_Mutation_p.E312K|LTF_uc010hjh.3_Missense_Mutation_p.E356K|LTF_uc003cpr.3_Missense_Mutation_p.E343K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	356					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCAGCCACTTCCTCCTCACCT	0.662000														22			14		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114302201	114302201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:114302201G>A	uc003vhb.3	+	13	2103	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.E602K|FOXP2_uc003vha.3_Missense_Mutation_p.E485K|FOXP2_uc011kmv.2_Missense_Mutation_p.E576K|FOXP2_uc011kmu.2_Missense_Mutation_p.E594K|FOXP2_uc010ljz.2_Missense_Mutation_p.E392K|FOXP2_uc003vhe.1_Missense_Mutation_p.E147K	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	577					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GACTGTGGATGAAGTAGAATA	0.388000														70			25		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71542944	71542944	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:71542944G>A	uc001xmo.2	+	27	5591	c.5145G>A	c.(5143-5145)gaG>gaA	p.E1715E	PCNX_uc010are.1_Silent_p.E1604E|PCNX_uc010arf.1_Silent_p.E503E	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1715						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTAAGCTAGAGGAGTGGCTAG	0.373000														114			33		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102984232	102984232	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:102984232G>A	uc003hvy.4	+	13	2423	c.2149_splice	c.e13-1	p.E717_splice	BANK1_uc003hvx.4_Splice_Site_p.E702_splice|BANK1_uc010ill.3_Splice_Site_p.E584_splice|BANK1_uc003hvz.4_Splice_Site_p.E687_splice	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	717					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CCACATTAAGGAGAAATTACG	0.338000														29			13		0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90035698	90035698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:90035698C>T	uc003hsk.3	+	0	1731	c.1573C>T	c.(1573-1575)Cat>Tat	p.H525Y		NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	525					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TAACAAAAATCATTAATAAGG	0.343000														27			22		0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322097	114322097	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:114322097G>A	uc010tkf.2	+	0	501	c.396G>A	c.(394-396)gcG>gcA	p.A132A		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	132	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GGATAGTGGCGAAGTTTAAGG	0.627000														13			3		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834497	101834497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:101834497C>T	uc003knn.3	-	0	224	c.52G>A	c.(52-54)Gga>Aga	p.G18R	SLCO6A1_uc003kno.3_Missense_Mutation_p.G18R|SLCO6A1_uc003knp.3_Missense_Mutation_p.G18R|SLCO6A1_uc003knq.3_Missense_Mutation_p.G18R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	18						integral to membrane|plasma membrane	transporter activity	p.G18*(2)|p.G18R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCTCTACTCCCCTTGAGACT	0.672000														105			22		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27394279	27394279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:27394279C>T	uc002ylz.3	-	5	942	c.742G>A	c.(742-744)Gat>Aat	p.D248N	APP_uc010glk.3_Missense_Mutation_p.D243N|APP_uc002yma.3_Missense_Mutation_p.D248N|APP_uc011ach.2_Missense_Mutation_p.D192N|APP_uc021whz.1_Missense_Mutation_p.D248N|APP_uc021wia.1_Missense_Mutation_p.D248N|APP_uc002ymb.3_Missense_Mutation_p.D248N|APP_uc010glj.3_Missense_Mutation_p.D192N|APP_uc021wib.1_Missense_Mutation_p.D248N|APP_uc011aci.2_Missense_Mutation_p.D213N|APP_uc011acj.2_Missense_Mutation_p.D248N	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	248	Asp/Glu-rich (acidic).				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ccatcctcatcgtcctcgtca	0.507000														12			4		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824095	54824095	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:54824095A>C	uc002xxb.2	+	0	308	c.196A>C	c.(196-198)Aac>Cac	p.N66H		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	103					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTGGTCAGGAACGGCAACCT	0.567000														56			30		0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49397710	49397710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:49397710C>T	uc003cwu.3	-	4	790	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	RHOA_uc010hku.3_Missense_Mutation_p.E91K|GPX1_uc021wxw.1_5'Flank|GPX1_uc021wxx.1_5'Flank	NM_001664	NP_001655	P61586	RHOA_HUMAN	Homo sapiens ras homolog gene family, member A (RHOA), mRNA.	172					Rho protein signal transduction|axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of axonogenesis|positive regulation of neuron differentiation|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GTAGCCATTTCAAAAACCTCT	0.483000														69			67		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732556	92732556	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:92732556C>G	uc003umf.3	-	2	3125	c.2855G>C	c.(2854-2856)gGg>gCg	p.G952A	SAMD9_uc003umg.3_Missense_Mutation_p.G952A|SAMD9_uc022ahg.1_Missense_Mutation_p.G952A	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	952						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTCTGTCCCCCAGAAAGC	0.398000														46			28		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945508	55945508	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:55945508C>T	uc010spp.2	+	0	498	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F166L(2)|p.F166F(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGGTAGATTTCTGTGTCTCCA	0.478000														73			53		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176997	140176997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140176997G>A	uc003lhc.1	+	0	2554	c.2448G>A	c.(2446-2448)atG>atA	p.M816I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron	NM_031495	NP_113683	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTCTATATGATTTCTACTA	0.279000														13			7		0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63087742	63087742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:63087742G>A	uc001srk.3	-	6	1260	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	371	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TATATAAGGGGGAACTTCAAG	0.507000														15			9		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57358231	57358232	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:57358231_57358232GG>TT	uc004dvc.3	+	3	762_763	c.613_614GG>TT	c.(613-615)gga>TTa	p.G205L		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	205						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TATTGTAGGTGGAAGTTCTGGT	0.342000										HNSCC(52;0.14)				18			66		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158630674	158630674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:158630674G>A	uc002tzn.3	-	5	999	c.569C>T	c.(568-570)tCa>tTa	p.S190L	ACVR1_uc002tzm.3_Missense_Mutation_p.S190L|ACVR1_uc010fog.2_Missense_Mutation_p.S190L	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	190	GS.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GCCACTTCCTGATGTACACGA	0.418000														56			46		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005600	42005600	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:42005600A>C	uc011kbh.2	-	14	3162	c.3071T>G	c.(3070-3072)tTc>tGc	p.F1024C	GLI3_uc011kbg.2_Missense_Mutation_p.F965C	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1024					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAGGCTGCTGAAGCGCGGCAC	0.726000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					24			14		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85936730	85936730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:85936730C>T	uc002fjh.3	+	1	166	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	IRF8_uc002fji.3_Missense_Mutation_p.R37W	NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	37					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R37W(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAGCATGTTCCGGATCCCTTG	0.522000														41			39		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:57187725G>T	uc010kzo.3	-	4	1668	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	466					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)			TTCTTCACATGTGTAGGGTCT	0.428000														207			5		0.217242	0.217724	1	1	0
ATOH1	474	broad.mit.edu	37	4	94750833	94750833	+	Silent	SNP	C	T	T	rs149770942		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:94750833C>T	uc003hta.1	+	0	756	c.756C>T	c.(754-756)acC>acT	p.T252T		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	252					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCAACGCGACCGCAGCTGGGG	0.716000														10			9		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391586	22391586	+	Splice_Site	SNP	A	T	T	rs140368718		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:22391586A>T	uc001mqk.3	+	8	1305	c.892_splice	c.e8-1	p.K298_splice		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	298					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAATTTCAGAAATTCAAGACT	0.333000														7			9		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404752	20404752	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:20404752G>A	uc001vwj.2	+	0	986	c.927G>A	c.(925-927)tgG>tgA	p.W309*		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	309					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)		TGAACTCCTGGAAAAACTAGG	0.438000														85			8		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155258	151155258	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:151155258T>G	uc011bod.2	-	5	7091	c.7091A>C	c.(7090-7092)aAc>aCc	p.N2364T	IGSF10_uc011bob.2_Missense_Mutation_p.N391T|IGSF10_uc011boc.2_Missense_Mutation_p.N343T	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2364	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTGGTGGGTTACCATCAAC	0.393000														84			72		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765813	18765813	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:18765813G>A	uc010exr.3	-	3	808	c.696C>T	c.(694-696)taC>taT	p.Y232Y	NT5C1B-RDH14_uc002rcy.3_Silent_p.Y290Y|NT5C1B-RDH14_uc010yju.2_Silent_p.Y230Y|NT5C1B-RDH14_uc002rcz.3_Silent_p.Y290Y|NT5C1B-RDH14_uc010yjw.2_Silent_p.Y273Y|NT5C1B-RDH14_uc010yjv.2_Silent_p.Y307Y|NT5C1B-RDH14_uc010exs.3_Silent_p.Y292Y|NT5C1B-RDH14_uc002rda.3_Silent_p.Y230Y|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.Y82Y	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	290					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GGTTCTTCTCGTAGAACGACC	0.692000														17			9		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731354	23731354	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:23731354G>A	uc002wtp.3	-	0	221	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	50						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGCTGATGGCGAAGTGAAGGG	0.572000														55			40		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303157	151303157	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:151303157C>T	uc022cgz.1	-	0	936	c.936G>A	c.(934-936)ctG>ctA	p.L312L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.L312L|MAGEA10_uc004ffm.2_Silent_p.L312L|MAGEA10_uc004ffl.3_Silent_p.L312L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	312	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAATTTCAGGAGACTCA	0.502000														9			66		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998159	115998159	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:115998159G>A	uc003ibu.3	-	1	713	c.34C>T	c.(34-36)Cga>Tga	p.R12*	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	12			R -> Q (in dbSNP:rs35181627).			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)		ATCAATGTTCGAAAACTTCTC	0.343000														12			5		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060701	16060701	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:16060701G>C	uc010xov.2	+	0	884	c.884G>C	c.(883-885)aGg>aCg	p.R295T		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TTCAGCCTAAGGAACAAGGAG	0.443000														80			73		0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999184	30999184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:30999184C>T	uc002eaf.2	+	6	896	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.P264S	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	264					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGATGGATCACCCTACAGGAG	0.637000														144			73		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287415	16287415	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:16287415C>T	uc010gqp.2	-	0	523	c.471G>A	c.(469-471)tgG>tgA	p.W157*	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	157										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CGTAGTCTCCCCAAGGGCCCA	0.592000														337			67		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792327	143792327	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:143792327A>T	uc011kty.2	+	0	127	c.127A>T	c.(127-129)Att>Ttt	p.I43F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGGAAATGGGATTATCCTGGG	0.493000														146			101		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064411	9064411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:9064411G>A	uc002mkp.3	-	2	23239	c.23035C>T	c.(23035-23037)Ccc>Tcc	p.P7679S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7681	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						TTCACAAAGGGAGGGCTAGGC	0.542000														39			21		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46307593	46307593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:46307593G>A	uc011bzc.1	-	5	942	c.530C>T	c.(529-531)tCc>tTc	p.S177F	GABRA2_uc003gxc.3_Missense_Mutation_p.S232F|GABRA2_uc010igc.2_Missense_Mutation_p.S232F|GABRA2_uc003gxe.3_Missense_Mutation_p.S232F			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	232					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACCTGTACTGGATTTAATTGT	0.368000														48			33		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964130	73964130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:73964130C>T	uc004eby.3	-	2	879	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	88					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.P87P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCAGCATGTTCGGGTGCTTCA	0.512000														8			37		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799168	5799168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:5799168C>T	uc010qzn.2	-	0	730	c.697G>A	c.(697-699)Gca>Aca	p.A233T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTGATCGCTGCCTTGAGGATC	0.443000														39			22		0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191587	149191588	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:149191587_149191588GG>AA	uc010lpi.2	-	1	302_303	c.31_32CC>TT	c.(31-33)ccg>TTg	p.P11L	ZNF746_uc003wfw.2_Missense_Mutation_p.P11L	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	11					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.P11S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CATCGTCCACGGAGAAATCTTT	0.550000														76			51		0	0	1	0	0
ERH	2079	broad.mit.edu	37	14	69847262	69847262	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:69847262C>G	uc001xlc.2	-	3	379	c.308G>C	c.(307-309)gGg>gCg	p.G103A		NM_004450	NP_004441	P84090	ERH_HUMAN	Homo sapiens enhancer of rudimentary homolog (Drosophila) (ERH), mRNA.	103					cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		CAATTATTTCCCAGCCTGTTG	0.493000														147			86		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78201660	78201660	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:78201660C>G	uc002jyb.2	+	6	943	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	SLC26A11_uc002jyc.2_Missense_Mutation_p.L213V|SLC26A11_uc002jyd.2_Missense_Mutation_p.L213V|SLC26A11_uc010dhv.2_Missense_Mutation_p.L213V	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	213						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGCTGCTGCTGGTGCTGAA	0.682000														173			4		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898596	37898596	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:37898596G>A	uc002hsr.3	+	1	317	c.42G>A	c.(40-42)ccG>ccA	p.P14P	GRB7_uc002hss.3_Silent_p.P14P|GRB7_uc021twu.1_Silent_p.P37P|GRB7_uc010cwc.3_Silent_p.P14P|GRB7_uc002hst.3_Silent_p.P14P	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	14					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAGCTCTCCGGAAGACCTTT	0.617000														143			99		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					84			51		0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552340	152552340	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:152552340T>G	uc021oza.1	-	0	73	c.73A>C	c.(73-75)Agc>Cgc	p.S25R	LCE3D_uc001fab.3_Missense_Mutation_p.S25R	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	25					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGTACTGGGCTCTTTGGGGGA	0.622000														103			64		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927948	6927948	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:6927948G>A	uc010clt.1	+	3	692	c.630G>A	c.(628-630)ggG>ggA	p.G210G	BCL6B_uc002geg.2_Silent_p.G210G	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	210						nucleus	zinc ion binding			skin(1)	1						CCCAAGCAGGGAGCCTGGTCG	0.622000														68			51		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112545836	112545836	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:112545836A>G	uc002thi.3	-	38	5021	c.4774T>C	c.(4774-4776)Ttc>Ctc	p.F1592L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1592					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGAGCTGGGAAGTGCGGATAA	0.428000														48			19		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:57187809T>G	uc010kzo.3	-	4	1584	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	438					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)			TTCTTCACATTTGTAGGGTCT	0.453000														137			3		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105712	105105712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:105105712G>A	uc003yls.3	+	20	2976	c.2735G>A	c.(2734-2736)tGg>tAg	p.W912*	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Nonsense_Mutation_p.W985*|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	366	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGATCAGGATGGGATCCTCAT	0.383000										HNSCC(12;0.0054)				93			137		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899606	233899606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:233899606G>A	uc010zmn.2	+	1	982	c.982G>A	c.(982-984)Gcc>Acc	p.A328T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	328							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGTACTGCTGGCCAAGGGCAG	0.632000														73			59		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102363938	102363938	+	Silent	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:102363938T>C	uc003knt.3	+	23	3115	c.2742T>C	c.(2740-2742)ttT>ttC	p.F914F	PAM_uc003knw.3_Silent_p.F913F|PAM_uc003kns.3_Silent_p.F806F|PAM_uc003knu.3_Silent_p.F845F|PAM_uc011cuz.2_Silent_p.F815F|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Intron	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	913					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGGGAAGATTTAGAGGTATGC	0.373000														57			45		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124103861	124103861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:124103861C>T	uc003ehg.3	+	10	2061	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	KALRN_uc010hrv.1_Missense_Mutation_p.S645F|KALRN_uc003ehf.1_Missense_Mutation_p.S645F|KALRN_uc011bjy.1_Missense_Mutation_p.S645F|KALRN_uc003ehh.1_Missense_Mutation_p.S4F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	645					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGTCTGTTTCCTTCCACACA	0.572000														57			31		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517327	140517327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140517327C>T	uc003liq.3	+	0	2528	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	771					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGATTATTCCTAACCTTTT	0.532000														114			61		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78820344	78820345	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:78820344_78820345CC>TT	uc002jyt.1	+	10	2089_2090	c.1284_1285CC>TT	c.(1282-1287)aaccca>aaTTca	p.P429S	RPTOR_uc010wuf.1_Missense_Mutation_p.P244S|RPTOR_uc010wug.1_Missense_Mutation_p.P429S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	429					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGAACCGAAACCCACCCGAACA	0.619000														72			61		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42092220	42092220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:42092220C>T	uc002ore.4	+	5	974	c.878C>T	c.(877-879)tCc>tTc	p.S293F	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.S292F	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	293						integral to membrane		p.I292V(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AGCTCCATCTCCTAGGTAAGA	0.592000														2			24		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878302	2878302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:2878302G>A	uc002lwp.1	+	3	1433	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	ZNF556_uc002lwq.3_Missense_Mutation_p.G448E	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AGTCACACAGGAAAGAAATCC	0.453000														63			38		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178426	65178426	+	Silent	SNP	C	T	T	rs146176907		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:65178426C>T	uc002lke.1	-	1	4674	c.3450G>A	c.(3448-3450)agG>agA	p.R1150R	DSEL_uc021ulg.1_Silent_p.R1150R	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1140						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGGCAAAAATCCTTTCAGTAG	0.393000														28			24		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67050673	67050674	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:67050673_67050674CC>TT	uc009yrn.1	+	14	1568_1569	c.1302_1303CC>TT	c.(1300-1305)aaccgg>aaTTgg	p.R435W		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	435	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGGATGTCAACCGGAGATTGGG	0.634000														107			55		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894575	166894575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:166894575G>A	uc002udo.4	-	16	2884	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	SCN1A_uc010fpk.3_Missense_Mutation_p.S858F|SCN1A_uc021vsb.1_Missense_Mutation_p.S875F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCCCCCACGGAATTGCCGAT	0.408000														34			29		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70488373	70488373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:70488373C>T	uc003xyg.2	+	4	902	c.341C>T	c.(340-342)tCc>tTc	p.S114F	SULF1_uc010lza.1_Missense_Mutation_p.S114F|SULF1_uc003xyd.2_Missense_Mutation_p.S114F|SULF1_uc003xye.2_Missense_Mutation_p.S114F|SULF1_uc003xyf.2_Missense_Mutation_p.S114F	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	114					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AACTGCTCTTCCCCCTCGTGG	0.512000														98			30		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933232	100933232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:100933232G>A	uc001pgh.2	-	3	2901	c.2158C>T	c.(2158-2160)Caa>Taa	p.Q720*	PGR_uc001pgg.2_Nonsense_Mutation_p.Q101*|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	720	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCGCCTAGTTGATTAAGACTT	0.363000														92			59		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187989	121187989	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:121187989T>G	uc003kss.3	+	0	340	c.331T>G	c.(331-333)Ttc>Gtc	p.F111V		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	111	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTGAACAACTTCTCCAGGTA	0.587000														21			20		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881710	108881710	+	Nonsense_Mutation	SNP	G	A	A	rs146012391		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:108881710G>A	uc010ywo.2	+	6	818	c.818G>A	c.(817-819)tGg>tAg	p.W273*		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	273						cytoplasm	alcohol sulfotransferase activity	p.W273*(2)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCTGGAGACTGGAAGAACTAT	0.478000														55			29		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428870	19428870	+	RNA	SNP	C	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:19428870C>A	uc010tcj.1	-	0		c.17240G>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		tgagccactgcacccagccTC	0.478000														9			7		2.0095e-06	2.04111e-06	1	1	0
PLCG1	5335	broad.mit.edu	37	20	39794935	39794935	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:39794935A>G	uc002xjp.1	+	16	2022	c.1901A>G	c.(1900-1902)gAc>gGc	p.D634G	PLCG1_uc002xjo.1_Missense_Mutation_p.D634G|PLCG1_uc010zwe.1_Missense_Mutation_p.D260G|PLCG1_uc010ggf.3_5'UTR	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	634	SH2 1.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCCCTCTATGACCTCATCACG	0.562000														51			39		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027667	161027667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:161027667C>T	uc003qtl.3	-	17	2747	c.2627G>A	c.(2626-2628)aGg>aAg	p.R876K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3384	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATCTGGATTCCTGCAGTAGTT	0.517000														113			101		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36223529	36223529	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:36223529G>T	uc021usv.1	+	27	6079	c.6079G>T	c.(6079-6081)Gag>Tag	p.E2027*	MLL2_uc021usu.1_Nonsense_Mutation_p.E841*	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	627					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						CTCCGAGGAGGAGTCCAGCCC	0.697000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				1			22		9.95505e-16	1.02498e-15	1	1	0
ZNF813	126017	broad.mit.edu	37	19	53994394	53994394	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:53994394A>C	uc021uzf.1	+	0	184	c.88A>C	c.(88-90)Aat>Cat	p.N30H	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.E303A	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAATGTGAAGAATGTGACAAA	0.388000														58			41		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827191	72827191	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:72827191G>A	uc002fck.3	-	8	10063	c.9390C>T	c.(9388-9390)aaC>aaT	p.N3130N	ZFHX3_uc002fcl.3_Silent_p.N2216N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3130					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)				AGGAGGGGCTGTTGAGGCCCG	0.542000														143			5		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920116	155920116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:155920116C>T	uc001fmu.2	-	24	3248	c.2993G>A	c.(2992-2994)cGt>cAt	p.R998H	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R192H|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R926H|ARHGEF2_uc001fms.2_Missense_Mutation_p.R953H|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R954H	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	954					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGAGACAGACGGCTGCTACC	0.622000														87			62		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141805657	141805657	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:141805657A>C	uc003vwy.3	+	47	5594	c.5540A>C	c.(5539-5541)aAt>aCt	p.N1847T		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1847					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)	AGCCTACATAATTTTACTTCA	0.358000														106			106		0	0	1	0	0
NCF1C	654817	broad.mit.edu	37	7	74578708	74578708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:74578708C>T	uc003ubv.3	-	5	635	c.496G>A	c.(496-498)Gag>Aag	p.E166K	NCF1C_uc011kfn.2_Missense_Mutation_p.E166K|NCF1C_uc011kfo.2_Missense_Mutation_p.E164K					Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA.																		TGACCGCTCTCGCTCTTCTCC	0.662000														20			10		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50952707	50952707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:50952707G>A	uc009xog.3	-	11	1836	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	OGDHL_uc001jie.3_Missense_Mutation_p.S574F|OGDHL_uc010qgt.2_Missense_Mutation_p.S517F|OGDHL_uc010qgu.2_Missense_Mutation_p.S365F|OGDHL_uc009xoh.2_Missense_Mutation_p.S365F	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	574					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGCCAGGGGGAGTCCAACCA	0.547000														8			36		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891708	132891708	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:132891708T>G	uc011eck.2	+	0	248	c.248T>G	c.(247-249)gTg>gGg	p.V83G		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	83						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTGGTGGGTGTGACTGTGATG	0.502000														67			31		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55255251	55255251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:55255251G>A	uc002qgx.3	+	3	416	c.379G>A	c.(379-381)Gag>Aag	p.E127K	KIR2DL1_uc010erw.1_Missense_Mutation_p.E127K|KIR2DL1_uc002qgz.1_Missense_Mutation_p.E37K|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	127					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGGTCTATATGAGAAACCTTC	0.557000														10			118		0	0	1	0	0
MIR206	406989	broad.mit.edu	37	6	52009186	52009186	+	RNA	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:52009186G>A	uc003paj.1	+	0		c.40G>A								Homo sapiens microRNA 206 (MIR206), microRNA.																		TCCCCATATGGATTACTTTGC	0.532000														11			29		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134173	48134173	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:48134173T>G	uc001rpz.4	-	21	2787	c.2237A>C	c.(2236-2238)aAg>aCg	p.K746T	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Missense_Mutation_p.K39T|RAPGEF3_uc001rpx.3_Missense_Mutation_p.K161T|RAPGEF3_uc010sln.2_Intron|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.K704T|RAPGEF3_uc009zkq.3_Missense_Mutation_p.K704T	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	704					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.L745F(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTTCTGCTCCTTGAGGCTGTG	0.587000														50			12		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798354	185798354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:185798354G>A	uc002uph.3	+	2	874	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	94						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAACAAAGGGAATTTGCTCG	0.358000														34			14		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677071	100677071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:100677071G>A	uc003uxp.1	+	2	2427	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	792	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACCACTGAAGGTACCAG	0.483000														656			177		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263753	34263753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:34263753G>A	uc002nus.4	+	4	1565	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	CHST8_uc002nut.4_Missense_Mutation_p.D354N|CHST8_uc002nuu.3_Missense_Mutation_p.D354N	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	354					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CATGGAGGACGATGCCAACTT	0.632000														34			23		0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100056719	100056719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:100056719G>A	uc003pqg.1	+	1	508	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	83	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACAGACTCTGGAAGCTATTGC	0.617000														34			17		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	395372	395372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:395372G>A	uc001ifp.3	-	24	3098	c.3008C>T	c.(3007-3009)aCc>aTc	p.T1003I	DIP2C_uc009xhi.1_Missense_Mutation_p.T389I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1003						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGCACGCAGGTCAGCGAGTT	0.607000														8			26		0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36439064	36439064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:36439064C>T	uc001bzp.3	+	4	955	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	EIF2C3_uc001bzn.1_Missense_Mutation_p.H204Y|EIF2C3_uc001bzq.3_Intron	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	204					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTGGATTCCATCAGTCTGT	0.463000														181			123		0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934409	68934409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:68934409C>T	uc003hdt.1	-	6	731	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	228	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGGCCTGACCCTATGAGCTGG	0.527000														53			11		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135480114	135480114	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:135480114C>T	uc004ezu.1	+	19	8550	c.8259C>T	c.(8257-8259)atC>atT	p.I2753I	GPR112_uc010nsb.1_Silent_p.I2548I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GATGTGGAATCTCCTCCATTT	0.398000														14			47		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615206	73615206	+	Silent	SNP	G	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:73615206G>C	uc002avp.3	-	7	4222	c.3228C>G	c.(3226-3228)ccC>ccG	p.P1076P		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1076	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGAGGCGGCCGGGGGTGAGCG	0.731000														13			2		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537331	5537331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:5537331C>T	uc001maz.4	-	0	626	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	114										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGGCAGGTCCCGGAAGGAATG	0.542000														85			15		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870749	69870749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:69870749C>T	uc011cao.1	-	7	1406	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	UGT2B10_uc011can.1_Missense_Mutation_p.G343E			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	471					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GTGTTTGGCTCCTTTGTGGCG	0.468000														81			49		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104174701	104174701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:104174701C>T	uc001kvg.1	-	3	1570	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.G348D	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	348					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)		ATCCTCATTGCCACTGCCGAG	0.652000														12			35		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602625	5602625	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:5602625C>T	uc010qzi.2	+	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCTTCATCATTATGTTTC	0.498000														154			117		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283159	33283159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:33283159G>A	uc003oeb.3	-	1	1687	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.P512L|ZBTB22_uc021ywm.1_Missense_Mutation_p.P512L	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCAGTCAAACGGCCGCAGATT	0.547000														15			69		0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158177966	158177966	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:158177966C>T	uc002tzi.3	-	3	866	c.711G>A	c.(709-711)gaG>gaA	p.E237E	ERMN_uc010zcj.2_Silent_p.E118E|ERMN_uc002tzh.3_Silent_p.E224E|ERMN_uc010zck.2_Silent_p.E204E	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	224						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GTGGGGAGTCCTCACTTGCAT	0.408000														119			86		0	0	1	0	0
CBWD1	55871	broad.mit.edu	37	9	156500	156500	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:156500G>T	uc003zga.4	-	6	662	c.556C>A	c.(556-558)Ctt>Att	p.L186I	CBWD1_uc010mgs.3_Non-coding_Transcript|CBWD1_uc003zgb.4_Missense_Mutation_p.L150I|CBWD1_uc003zgc.4_Missense_Mutation_p.L186I|CBWD1_uc011llr.1_Missense_Mutation_p.L150I	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	Homo sapiens COBW domain containing 1 (CBWD1), transcript variant 1, mRNA.	186							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCATTGATAAGGCCATCAGGT	0.269000														32			19		2.08457e-15	2.14142e-15	1	1	0
CCDC13	152206	broad.mit.edu	37	3	42777380	42777380	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:42777380A>C	uc003cly.4	-	9	1274	c.1190T>G	c.(1189-1191)aTc>aGc	p.I397S		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	397										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCTGCCTAGGATCTCCTGTAG	0.622000														16			10		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523344	9523344	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:9523344G>A	uc002wnl.2	-	9	2438	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	PAK7_uc002wnk.2_Silent_p.I631I|PAK7_uc002wnj.2_Silent_p.I631I|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	631	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G630W(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTATCACCATGATCCCGAGGG	0.522000														64			36		0	0	1	0	0
RPS8	6202	broad.mit.edu	37	1	45243706	45243706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:45243706G>A	uc001cmi.3	+	4	445	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	SNORD38B_uc001cml.3_5'Flank	NM_001012	NP_001003	P62241	RS8_HUMAN	Homo sapiens ribosomal protein S8 (RPS8), mRNA.	141					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					AACAAAAAACGATCTAAAAAA	0.433000														15			6		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150553699	150553699	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:150553699C>T	uc003why.1	+	2	4359	c.141C>T	c.(139-141)ttC>ttT	p.F47F	ABP1_uc003whz.1_Silent_p.F47F|ABP1_uc003wia.1_Silent_p.F47F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	47					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TGCACAGCTTCCTCTGGTCCA	0.597000														123			33		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321227	79321227	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:79321227G>T	uc010mpk.3	-	7	6087	c.5963C>A	c.(5962-5964)tCa>tAa	p.S1988*	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Nonsense_Mutation_p.S1810*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1988					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCATTAGTTGAAACATTAGA	0.423000														87			4		0.150653	0.151323	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187626418	187626418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:187626418G>A	uc002ups.3	+	7	1461	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	FAM171B_uc002upr.1_Missense_Mutation_p.R417K|FAM171B_uc002upt.3_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	450						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACAGAAGAAAGAGTTTCCATG	0.358000														15			15		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975140	19975140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:19975140C>T	uc003cbl.4	-	0	567	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	EFHB_uc003cbm.3_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	124					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGTATTATCCGTTCATGGGT	0.507000														45			45		0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141365102	141365102	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:141365102G>A	uc003vwk.3	-	5	837	c.837C>T	c.(835-837)tgC>tgT	p.C279C		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	279	Poly-Cys.									breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CGTTGGCCAAGCAGCAGCAGC	0.612000														47			27		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71142214	71142214	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:71142214A>G	uc003tvy.3	+	8	1423	c.1423A>G	c.(1423-1425)Aaa>Gaa	p.K475E	WBSCR17_uc003tvz.3_Missense_Mutation_p.K174E	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	475	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAACAAGGCAAAAGACGTCTG	0.547000														395			122		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176853524	176853524	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:176853524G>A	uc001glc.3	-	18	3389	c.3177C>T	c.(3175-3177)ctC>ctT	p.L1059L	ASTN1_uc001glb.1_Silent_p.L1059L|ASTN1_uc001gld.1_Silent_p.L1059L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1067	Fibronectin type-III 1.				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						TCTCTTGACGGAGGAGGTAAT	0.517000														60			60		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685088	100685088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:100685088C>T	uc003uxp.1	+	2	10444	c.10391C>T	c.(10390-10392)cCt>cTt	p.P3464L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3464	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAATTATGCCTCTCAGTACC	0.493000														658			175		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:19553567G>A	uc001vuz.1	+	0	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000														544			42		0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118726448	118726448	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:118726448G>T	uc022cdk.1	-	2	280	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	NKRF_uc004erq.3_Missense_Mutation_p.L5I|NKRF_uc004err.3_Missense_Mutation_p.L5I	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	5	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCCATTTGGAGAATTTTTTCC	0.378000														32			4		0.014758	0.0148898	1	1	0
abParts	0	broad.mit.edu	37	14	106478467	106478467	+	RNA	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:106478467C>T	uc021ser.1	-	2450		c.42641G>A								Parts of antibodies, mostly variable regions.																		TCCCATATCCCCATGTCTGCA	0.592000														21			6		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619135	141619135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:141619135C>T	uc003vwu.1	+	0	460	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTTTGGGTTTCTTTTTCAAAT	0.423000														138			131		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42879809	42879809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:42879809C>T	uc002otl.4	+	40	7854	c.7219C>T	c.(7219-7221)Cgc>Tgc	p.R2407C	MEGF8_uc002otm.4_Missense_Mutation_p.R2015C|MEGF8_uc002otn.4_Missense_Mutation_p.R68C	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2474	Laminin EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGCCCCGGCCGCACTGTCCT	0.647000														6			14		0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812393	169812394	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:169812393_169812394CC>TT	uc003maq.1	-	1	458_459	c.58_59GG>AA	c.(58-60)ggt>AAt	p.G20N	KCNIP1_uc003map.3_Intron|KCNMB1_uc003mar.3_Missense_Mutation_p.G20N	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	20					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CATGGTTACACCCAGGCAAAGG	0.559000														37			27		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903229	6903230	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:6903229_6903230GG>AA	uc003bqm.2	+	0	428_429	c.154_155GG>AA	c.(154-156)ggg>AAg	p.G52K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G52K|GRM7_uc003bql.2_Missense_Mutation_p.G52K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	52					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CGTCACCCTCGGGGGGCTGTTC	0.698000														2			5		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8633430	8633430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:8633430G>A	uc003zkk.3	-	13	982	c.239C>T	c.(238-240)tCa>tTa	p.S80L	PTPRD_uc003zkp.3_Missense_Mutation_p.S80L|PTPRD_uc003zkq.3_Missense_Mutation_p.S80L|PTPRD_uc003zkr.3_Missense_Mutation_p.S80L|PTPRD_uc003zks.3_Missense_Mutation_p.S80L|PTPRD_uc022bdj.1_Missense_Mutation_p.S80L|PTPRD_uc003zkt.1_Missense_Mutation_p.S80L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	80	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGAGAACTGATCCAGACCC	0.428000										TSP Lung(15;0.13)				23			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139155	90139155	+	RNA	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:90139155C>T	uc010yts.2	+	29		c.3338C>T								Parts of antibodies, mostly variable regions.																		TGCTCTGTTTCCCAGGTAAGG	0.498000														153			64		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400628	85400628	+	Missense_Mutation	SNP	C	T	T	rs147903664		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:85400628C>T	uc002ble.3	+	5	3432	c.3265C>T	c.(3265-3267)Ccg>Tcg	p.P1089S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1089					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)			GTGTAGCACCCCGACTTCTCA	0.637000														35			18		0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689598	10689598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:10689598C>T	uc001arn.3	+	8	709	c.688C>T	c.(688-690)Cct>Tct	p.P230S	PEX14_uc009vmv.3_Missense_Mutation_p.P166S|PEX14_uc010oam.2_Missense_Mutation_p.P166S|PEX14_uc010oan.2_Missense_Mutation_p.P187S|PEX14_uc009vmw.3_Missense_Mutation_p.P166S	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	230					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGCAGTTCCCTCCATCCCC	0.657000														102			57		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411657	2411657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:2411657G>A	uc002wfy.1	+	11	2012	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	651					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTTCTCCAGGAACAGCTCAG	0.592000														44			33		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167249033	167249033	+	Silent	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:167249033T>C	uc003fev.1	-	8	1336	c.1032A>G	c.(1030-1032)agA>agG	p.R344R	WDR49_uc003feu.1_Silent_p.R169R|WDR49_uc011bpd.1_Silent_p.R408R|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	344										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGGTTGGCTTCTCCCAGCAC	0.433000														35			28		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207785063	207785063	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:207785063C>T	uc001hfy.3	+	29	5127	c.4987C>T	c.(4987-4989)Cta>Tta	p.L1663L	CR1_uc001hfx.3_Silent_p.L2113L|CR1_uc021pij.1_Silent_p.L1663L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1663	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.L1662M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGAGCATACCCTAAGCCATCA	0.522000														109			67		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166974589	166974589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:166974589G>A	uc001gdy.1	+	7	871	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	MAEL_uc021peh.1_Missense_Mutation_p.R211Q|MAEL_uc001gdz.1_Missense_Mutation_p.R236Q|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	267					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.R267*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTTGGATTCGAAGCCTCCTA	0.403000														31			24		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37224149	37224149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:37224149C>T	uc002hrg.2	-	13	1659	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.E179K|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	483					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.A482A(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCTCCACCTCCGCATAGGTG	0.577000														60			36		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187502	12187502	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:12187502A>G	uc002mtb.2	+	3	1710	c.1567A>G	c.(1567-1569)Aaa>Gaa	p.K523E	ZNF844_uc010dym.1_Missense_Mutation_p.K366E	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K523E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CAAATGCATGAAAGGACTCAC	0.413000														88			3		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002665	132002665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:132002665G>A	uc003ytd.4	-	1	1340	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	ADCY8_uc010mds.3_Missense_Mutation_p.R362C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	362					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	p.R362S(2)		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)			GTCTCCAGGCGCAGCCTGGCC	0.502000										HNSCC(32;0.087)				74			162		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067660	190067660	+	Missense_Mutation	SNP	C	T	T	rs139472620		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:190067660C>T	uc001gse.1	-	7	2021	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	FAM5C_uc010pot.1_Missense_Mutation_p.E495K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	597						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTAGTCCGCTCCCAGTCTGGA	0.478000														182			128		0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148578029	148578029	+	Missense_Mutation	SNP	G	A	A	rs143474305		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:148578029G>A	uc011mxe.2	-	5	944	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	IDS_uc011mxf.2_Missense_Mutation_p.P153S|IDS_uc011mxg.2_Missense_Mutation_p.P32S|IDS_uc010nsu.2_Intron|IDS_uc004fcw.4_Missense_Mutation_p.P32S|IDS_uc011mxh.2_Missense_Mutation_p.P243S|IDS_uc011mxi.2_Non-coding_Transcript	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	243						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTCTCCAAGGGATACAACTTC	0.517000														7			47		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183523	197183523	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:197183523C>T	uc002utm.1	-	8	2274	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S	HECW2_uc002utl.1_Silent_p.S341S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGGATTCCTGCGACCCTTCGG	0.612000														30			12		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68331883	68331883	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:68331883C>T	uc001onv.3	+	8	1225	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	PPP6R3_uc001onw.3_Silent_p.L320L|PPP6R3_uc001ony.4_Silent_p.L320L|PPP6R3_uc001onx.3_Silent_p.L320L|PPP6R3_uc009ysh.3_Silent_p.L320L|PPP6R3_uc001onu.3_Silent_p.L320L|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_Silent_p.L27L	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	320					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCATGAACTCCTGCTGGAGCC	0.483000														86			67		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120767143	120767143	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:120767143G>A	uc003vjq.4	+	10	1582	c.1135_splice	c.e10-1	p.V379_splice	C7orf58_uc003vjr.1_Splice_Site_p.V379_splice|C7orf58_uc003vjs.4_Splice_Site_p.V379_splice|C7orf58_uc003vjt.4_Splice_Site_p.V159_splice|C7orf58_uc010lkk.2_Splice_Site_p.V159_splice	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	379						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)					TTCTTTCAAAGGTACACGAGC	0.284000														72			11		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63727144	63727144	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:63727144A>T	uc003tsx.3	+	4	1402	c.1133A>T	c.(1132-1134)gAa>gTa	p.E378V		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACTGGAGAGGAACCCTACAAA	0.388000														25			18		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1526974	1526974	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:1526974G>A	uc003skn.2	-	19	2729	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L	INTS1_uc003skp.1_Silent_p.L223L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	876					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGATGATGTGGAGGAGAAAGT	0.627000														12			9		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29784173	29784173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:29784173G>A	uc002kxj.4	+	6	444	c.397G>A	c.(397-399)Gtt>Att	p.V133I		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	133	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAATAGGCGGGTTGGGAAGCA	0.512000														20			3		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727126	181727126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:181727126G>A	uc009wxt.3	+	30	4568	c.4373G>A	c.(4372-4374)cGc>cAc	p.R1458H	CACNA1E_uc001gow.3_Missense_Mutation_p.R1458H|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1439H|CACNA1E_uc001gox.1_Missense_Mutation_p.R684H	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1458					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T1457T(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTCTCACCCGCTACATGCCG	0.512000														165			12		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038844	75038844	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:75038844C>T	uc001dgg.3	-	13	2769	c.2550G>A	c.(2548-2550)agG>agA	p.R850R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	850	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCACCCAGCCTTCTGACCC	0.532000														81			40		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004309	74004309	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:74004309G>A	uc010wss.1	-	21	5271	c.5043C>T	c.(5041-5043)ctC>ctT	p.L1681L	EVPL_uc002jqi.2_Silent_p.L1659L|EVPL_uc010wst.1_Silent_p.L1129L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1659	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGAGGTCCCGGAGCGTCCGCT	0.667000														39			25		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428903	10428903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:10428903C>T	uc010coi.3	-	31	4530	c.4402G>A	c.(4402-4404)Gaa>Aaa	p.E1468K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1468K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1468					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATGCGTTTCCTCACATTTC	0.478000														28			15		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145883511	145883511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:145883511G>A	uc003lob.3	+	17	2712	c.2672G>A	c.(2671-2673)aGa>aAa	p.R891K	TCERG1_uc003loc.3_Missense_Mutation_p.R870K	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	891					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCGAGAGAGAGAGCAGCAC	0.423000														43			22		0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797188	20797188	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:20797188G>A	uc001und.4	-	2	819	c.432C>T	c.(430-432)atC>atT	p.I144I	GJB6_uc001umz.4_Silent_p.I144I|GJB6_uc001unb.4_Silent_p.I144I|GJB6_uc001unc.4_Silent_p.I144I|GJB6_uc001una.4_Silent_p.I144I|GJB6_uc021rhb.1_Silent_p.I144I	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	144					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CTTCAAAGATGATTCGGAAAA	0.463000														35			26		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416220	86416220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:86416220G>A	uc003uid.3	+	2	2211	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	GRM3_uc010lef.3_Missense_Mutation_p.R369H|GRM3_uc010leg.3_Missense_Mutation_p.R243H|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	371					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCACAGGCGCGTCTGCGAC	0.567000														53			57		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900416	13900416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:13900416C>T	uc003jfd.2	-	14	2200	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	720	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACTCTGTTTCTCTAAATAAG	0.423000									Kartagener syndrome					62			35		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159842	170159842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:170159842G>A	uc003mas.3	+	6	1036	c.507G>A	c.(505-507)atG>atA	p.M169I	KCNIP1_uc003map.3_Missense_Mutation_p.M167I|KCNIP1_uc003mat.3_Missense_Mutation_p.M158I|KCNIP1_uc010jjp.3_Missense_Mutation_p.M130I|KCNIP1_uc010jjq.3_Missense_Mutation_p.M183I	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	169					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGACATGATGGGGAAATACA	0.488000														78			54		0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31856331	31856331	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:31856331A>C	uc001wrf.4	-	7	1369	c.1184T>G	c.(1183-1185)gTt>gGt	p.V395G	HEATR5A_uc010ami.3_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Missense_Mutation_p.V395G	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	389							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CATACCCATAACTTTCTTTAG	0.373000														56			65		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348353	140348353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140348353C>T	uc003lii.3	+	0	2607	c.2002C>T	c.(2002-2004)Cca>Tca	p.P668S	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_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.P668S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	668	Cadherin 6.				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)			TAATGGAGAGCCATCACTATC	0.507000														65			14		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34724228	34724229	+	Missense_Mutation	DNP	TT	CA	CA			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:34724228_34724229TT>CA	uc003teh.1	+	1	340_341	c.212_213TT>CA	c.(211-213)ctt>cCA	p.L71P	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.L71P|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.L71P|NPSR1_uc003tei.1_Missense_Mutation_p.L71P|NPSR1_uc010kww.1_Missense_Mutation_p.L71P|NPSR1_uc011kar.1_Missense_Mutation_p.L71P	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	71						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.L71V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCCGTTGTGCTTTTTTCCACAT	0.421000														92			52		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52523799	52523799	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:52523799G>A	uc001vfw.2	-	12	3022	c.2865_splice	c.e12+1	p.P955_splice	ATP7B_uc001vfy.2_Splice_Site_p.P844_splice|ATP7B_uc010adv.2_Splice_Site_p.P525_splice|ATP7B_uc001vfx.2_Intron|ATP7B_uc010tgt.1_Splice_Site_p.P955_splice|ATP7B_uc010tgu.1_Splice_Site_p.P907_splice|ATP7B_uc010tgv.1_Splice_Site_p.P877_splice|ATP7B_uc001vfv.2_Splice_Site_p.P227_splice|ATP7B_uc010tgs.1_Splice_Site_p.P227_splice	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	955					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCAACTTACAGGAAAGTATCT	0.353000									Wilson disease					66			42		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117838788	117838788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:117838788C>T	uc004bjj.4	-	7	3153	c.2741G>A	c.(2740-2742)aGg>aAg	p.R914K	TNC_uc010mvf.3_Missense_Mutation_p.R914K|TNC_uc022bmj.1_Missense_Mutation_p.R914K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	914	Fibronectin type-III 4.				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						CTTGCCATTCCTCCATTCCAG	0.483000														325			213		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21667100	21667100	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:21667100G>T	uc004czx.2	+	20	3324	c.2844G>T	c.(2842-2844)atG>atT	p.M948I	CNKSR2_uc011mjo.2_Missense_Mutation_p.M918I	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	948					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATCCTGTAATGAATGAAAAAC	0.368000														73			3		1	1	1	1	0
FAT2	2196	broad.mit.edu	37	5	150945297	150945297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:150945297C>T	uc003lue.4	-	0	3209	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K	FAT2_uc010jhx.1_Missense_Mutation_p.E1066K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1066	Cadherin 9.				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)			TACTGGAGCTCCCCATCCAAG	0.622000														19			24		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033543	40033543	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:40033543A>C	uc002xka.1	-	36	8016	c.7838T>G	c.(7837-7839)cTc>cGc	p.L2613R	CHD6_uc002xjz.1_Missense_Mutation_p.L150R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2613					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			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)				TCCTGGGATGAGAAATGGGTT	0.507000														40			46		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296616	9296616	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:9296616C>T	uc002mkz.1	+	0	347	c.159C>T	c.(157-159)tcC>tcT	p.S53S		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	53					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GCTCTGACTCCCACCTCCACA	0.532000														97			63		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964314	6964314	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:6964314G>A	uc001mey.3	+	5	1072	c.484_splice	c.e5-1	p.E162_splice	ZNF215_uc010raw.2_Intron|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Splice_Site_p.E162_splice	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	162					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATGTTTTAGGAACCAGTGAC	0.438000														73			49		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237794808	237794808	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:237794808C>T	uc001hyl.1	+	41	6642	c.6522C>T	c.(6520-6522)gtC>gtT	p.V2174V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2174	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATGGAGGTCATGGTGAACG	0.433000														30			18		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17087475	17087475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:17087475G>A	uc010ock.2	-	1	190	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGCCCACAGCGACCAGCACAC	0.632000														161			32		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062298	216062298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:216062298G>A	uc001hku.1	-	40	8080	c.7693C>T	c.(7693-7695)Cat>Tat	p.H2565Y		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2565	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGTTATAATGGGTAATAACC	0.418000										HNSCC(13;0.011)				68			57		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53025816	53025816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:53025816G>A	uc003xqz.2	-	20	3242	c.3086C>T	c.(3085-3087)cCg>cTg	p.P1029L	ST18_uc011ldq.1_Missense_Mutation_p.P676L|ST18_uc011ldr.1_Missense_Mutation_p.P994L|ST18_uc011lds.1_Missense_Mutation_p.P934L|ST18_uc003xra.2_Missense_Mutation_p.P1029L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	1029						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)				TTTGCATTCCGGGGAATAGTC	0.448000														75			98		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138827914	138827914	+	Silent	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:138827914A>G	uc004faz.3	-	24	3039	c.2940T>C	c.(2938-2940)ctT>ctC	p.L980L	ATP11C_uc004fax.3_Silent_p.L188L|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.L980L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	980					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGTCTGAAAAAGAAAGTAAG	0.403000														5			11		0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75698579	75698579	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:75698579A>C	uc001sxl.3	-	7	766	c.737T>G	c.(736-738)aTg>aGg	p.M246R	CAPS2_uc001sxm.3_Missense_Mutation_p.M33R|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.4_Missense_Mutation_p.M33R|CAPS2_uc001sxj.4_Missense_Mutation_p.M208R|CAPS2_uc001sxk.4_Missense_Mutation_p.M265R	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	265							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGAGGTGTCATCTTTGAATC	0.318000														34			21		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072305	63072305	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:63072305C>T	uc009yor.3	+	8	1750	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	514						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGTCTTCCTCCTACCAGAAA	0.448000														71			38		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666540	160666540	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:160666540T>C	uc003qtf.3	-	5	1169	c.995A>G	c.(994-996)aAc>aGc	p.N332S		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	332					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AAATGAAGGGTTCAATTTCTT	0.388000														17			18		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863756	55863756	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:55863756C>A	uc003tqz.2	-	9	1266	c.1149G>T	c.(1147-1149)atG>atT	p.M383I		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	383					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTGTTGAATCATTTTAAGAT	0.413000														10			20		8.34094e-07	8.49122e-07	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175066	57175066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:57175066C>T	uc010ygn.2	-	1	1728	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAAAGGCGTCCCGAACTGTCT	0.647000														32			184		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267060	124267060	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:124267060A>C	uc010saj.2	-	0	188	c.188T>G	c.(187-189)cTc>cGc	p.L63R	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	63					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)		GAGATTGAAGAGGAAATAGTA	0.388000														60			30		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91403151	91403151	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:91403151G>A	uc001dnw.3	-	3	3862	c.3579C>T	c.(3577-3579)atC>atT	p.I1193I	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTGATTATGGATCTTTTGAG	0.373000														45			24		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9543557	9543557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:9543557C>T	uc002wnl.2	-	6	2142	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	PAK7_uc002wnk.2_Missense_Mutation_p.D533N|PAK7_uc002wnj.2_Missense_Mutation_p.D533N|PAK7_uc010gby.1_Missense_Mutation_p.D533N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	533	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTCACAATGTCTGTCAAGGCA	0.473000														72			41		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492135	85492135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:85492135G>A	uc001tac.3	+	11	3001	c.2890G>A	c.(2890-2892)Ggt>Agt	p.G964S	LRRIQ1_uc021rbo.1_Missense_Mutation_p.G842S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	964										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTTCTAGGTGGTTTAGAATC	0.308000														13			10		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94692474	94692474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:94692474C>T	uc001tdc.3	+	26	4390	c.4141C>T	c.(4141-4143)Cca>Tca	p.P1381S	PLXNC1_uc010sut.2_Missense_Mutation_p.P428S|PLXNC1_uc009zsv.3_Missense_Mutation_p.P120S	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1381					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGCAGAGCTCCATTTGCTAT	0.373000														22			17		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105137924	105137924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:105137924G>A	uc004emd.3	+	5	781	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	160	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TATCTGCCGAGAAATCCTTCA	0.398000										HNSCC(51;0.14)				1			10		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157556085	157556085	+	Silent	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:157556085A>C	uc001fqw.3	-	5	1144	c.1008T>G	c.(1006-1008)acT>acG	p.T336T	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	336	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGGAACGCTGAGTTTTCCTCC	0.587000														57			46		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12859277	12859277	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:12859277C>T	uc002gnr.4	+	13	1557	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	ARHGAP44_uc010vvk.2_Silent_p.L410L|ARHGAP44_uc010vvl.2_Silent_p.L410L|ARHGAP44_uc002gns.4_Silent_p.L210L|ARHGAP44_uc010vvm.2_Silent_p.L410L|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_Silent_p.L133L	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	410	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GACCCAACCTCCTATGGCCAC	0.473000														30			8		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70550817	70550817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:70550817C>T	uc003xyg.2	+	18	2926	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F	SULF1_uc010lza.1_Missense_Mutation_p.L789F|SULF1_uc003xyd.2_Missense_Mutation_p.L789F|SULF1_uc003xye.2_Missense_Mutation_p.L789F|SULF1_uc003xyf.2_Missense_Mutation_p.L789F|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_Intron|SULF1_uc003xyj.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	789					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCATAATTTTCTTTTCTGTGA	0.348000														33			69		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716997	13716997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:13716997C>T	uc001rbt.2	-	12	3354	c.3175G>A	c.(3175-3177)Gat>Aat	p.D1059N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1059					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAGAGACATCGGAGCGGATC	0.572000														30			19		0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24734548	24734548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:24734548C>T	uc004dbl.3	+	6	592	c.577C>T	c.(577-579)Cct>Tct	p.P193S	POLA1_uc004dbm.3_Missense_Mutation_p.P199S	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)	TTCACCGAATCCTTTCTCTGT	0.388000														3			19		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651278	207651278	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:207651278T>C	uc001hfw.3	+	14	2893	c.2774T>C	c.(2773-2775)cTg>cCg	p.L925P	CR2_uc001hfv.3_Missense_Mutation_p.L984P|CR2_uc009xch.3_Missense_Mutation_p.L863P	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	925	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAGGGCTGGAACCAAGG	0.438000														27			26		0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13275623	13275623	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:13275623C>T	uc001imd.3	-	2	205	c.135G>A	c.(133-135)caG>caA	p.Q45Q		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA.	45						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAAAATCTTCTGTTTTGCAT	0.597000														17			42		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125074092	125074092	+	Splice_Site	SNP	G	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:125074092G>C	uc003yqw.3	+	25	3354	c.3148_splice	c.e25-1	p.E1050_splice	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1050	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCTCTGCAGGAACTGCCTG	0.582000														88			60		0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33478982	33478982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:33478982G>A	uc001bwp.2	-	5	603	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	BC036308_uc001bwn.3_Intron|AK2_uc001bwq.2_Missense_Mutation_p.R126C|AK2_uc010ohq.2_Missense_Mutation_p.R166C|AK2_uc001bwo.2_Missense_Mutation_p.R174C|AK2_uc009vud.2_Missense_Mutation_p.R132C|AK2_uc010ohr.2_Missense_Mutation_p.R126C	NM_001625	NP_001616	P54819	KAD2_HUMAN	Homo sapiens adenylate kinase 2 (AK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	ATP binding|adenylate kinase activity			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCTGATCGACGGATCAAGGGT	0.483000														16			12		0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955884	57955885	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:57955884_57955885CC>TG	uc002qoq.2	+	2	1622_1623	c.1368_1369CC>TG	c.(1366-1371)caccag>caTGag	p.Q457E		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H456H(2)|p.Q457E(2)|p.H369H(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCCA	0.421000														92			4		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481150	140481150	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140481150A>C	uc003lio.3	+	0	917	c.917A>C	c.(916-918)tAt>tCt	p.Y306S	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	306	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTCAAATATTTGAATTTT	0.388000														30			24		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018831	41018831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:41018831C>T	uc003jmj.4	-	25	3125	c.2635G>A	c.(2635-2637)Gat>Aat	p.D879N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D434N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	879							binding	p.W878R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTCACATTATCCCACATCATG	0.428000														35			18		0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20931527	20931527	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:20931527C>T	uc001bdk.3	+	1	440	c.261C>T	c.(259-261)atC>atT	p.I87I	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Intron	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	87					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CAATTGCTATCGCCAGGTGAG	0.453000														22			8		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52992816	52992816	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:52992816C>T	uc001sar.2	-	1	593	c.507G>A	c.(505-507)agG>agA	p.R169R	KRT72_uc001saq.2_Silent_p.R169R|KRT72_uc010sns.1_Silent_p.R169R|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	169	Linker 1.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCAGGTTCTTCCTGCAGTTGT	0.562000														63			41		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39967006	39967006	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:39967006C>T	uc002olo.4	+	29	3410	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	SUPT5H_uc002olp.4_Silent_p.N1077N|SUPT5H_uc002olq.4_Silent_p.N1073N|SUPT5H_uc002oln.4_Silent_p.N1077N|SUPT5H_uc002olr.4_Silent_p.N1077N	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	1077					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGATCCTCAACCTCCGCTTCC	0.597000														12			56		0	0	1	0	0
TSEN54	283989	broad.mit.edu	37	17	73519416	73519416	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:73519416G>A	uc002jof.1	+	9	1346	c.1313_splice	c.e9+1	p.R438_splice	LLGL2_uc002jog.1_5'Flank|LLGL2_uc010dgf.1_5'Flank|LLGL2_uc002joh.3_5'Flank|LLGL2_uc002joi.3_5'Flank	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	Homo sapiens tRNA splicing endonuclease 54 homolog (S. cerevisiae) (TSEN54), mRNA.	438					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGGTGCCCGGTAAGTTTCC	0.537000														130			4		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204653	128204653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:128204653C>T	uc003ekm.3	-	3	1223	c.788G>A	c.(787-789)gGa>gAa	p.G263E	GATA2_uc003ekn.3_Missense_Mutation_p.G263E|GATA2_uc003eko.2_Missense_Mutation_p.G263E	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	263					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTGGAAGAGTCCGCTGCTGTA	0.657000			Mis		AML(CML blast transformation)									10			15		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14755005	14755005	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:14755005A>T	uc002mzi.4	-	8	1113	c.965T>A	c.(964-966)tTc>tAc	p.F322Y	EMR3_uc010dzp.3_Missense_Mutation_p.F270Y|EMR3_uc010xnv.2_Missense_Mutation_p.F196Y	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	322	GPS.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.F322F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTGTATCAGGAAGCAGCCATC	0.502000														51			46		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907847	12907847	+	Missense_Mutation	SNP	C	T	T	rs150230498		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:12907847C>T	uc010obf.2	-	1	522	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	LOC649330_uc009vno.2_Missense_Mutation_p.R99Q	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	99							nucleic acid binding|nucleotide binding										CGCTGCTGATCGTTTCACACC	0.488000														119			15		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148925	125148925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:125148925G>A	uc004bmg.1	+	8	1345	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.E295K|PTGS1_uc011lyt.1_Missense_Mutation_p.E295K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	404					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.E404K(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GTACAGCTACGAGCAGTTCTT	0.577000														87			66		0	0	1	0	0
WASH7P	653635	broad.mit.edu	37	1	15844	15844	+	RNA	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:15844T>C	uc009vis.3	-	1		c.258A>G			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Non-coding_Transcript|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript|WASH7P_uc009vix.2_Non-coding_Transcript|WASH7P_uc009vjd.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CGCTCCTTCATGCTGCGCAGC	0.647000														6			2		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635510	32635510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:32635510G>A	uc003zrg.1	-	0	158	c.68C>T	c.(67-69)tCg>tTg	p.S23L	AX747113_uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	23					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCGCTGTCCGAGTCTGACAT	0.567000														62			61		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73072000	73072000	+	RNA	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:73072000A>C	uc004ebm.1	-	0		c.589T>G								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AATTTTTAAAAAGCAGATATC	0.458000														0			5		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28636041	28636041	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:28636041A>C	uc001urw.3	-	2	413	c.331T>G	c.(331-333)Tcc>Gcc	p.S111A	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.S111A	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	111					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAATTCAGGGAGCTGTGCTTA	0.453000			"""Mis, O"""		"""AML, ALL"""									48			28		0	0	1	0	0
FAM92B	339145	broad.mit.edu	37	16	85135862	85135862	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:85135862G>A	uc021tma.1	-	6	765	c.609C>T	c.(607-609)gcC>gcT	p.A203A	FAM92B_uc021tlz.1_Silent_p.A201A	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	203										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GGGTCTGGAAGGCGCTAGAAT	0.463000														58			34		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	C	C	rs79807294	by1000genomes	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:71347185T>C	uc011cat.2	+	3	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_uc011cau.2_Missense_Mutation_p.S242P|MUC7_uc003hfj.3_Missense_Mutation_p.S242P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000														151			3		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958628	166958628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:166958628G>A	uc011bpc.2	-	21	2810	c.2473C>T	c.(2473-2475)Ctc>Ttc	p.L825F	ZBBX_uc003feq.3_Missense_Mutation_p.L757F|ZBBX_uc003fep.3_Missense_Mutation_p.L786F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	786						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCTTGTTGAGAAAATCTTCC	0.378000														47			27		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650812	93650812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:93650812G>A	uc004aqz.3	+	12	1943	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	SYK_uc004ara.3_Missense_Mutation_p.E557K|SYK_uc004arb.3_Missense_Mutation_p.E557K|SYK_uc004arc.3_Missense_Mutation_p.E580K|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	580	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.D580H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GAAAGGAAGTGAAGTCACCGC	0.438000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									15			16		0	0	1	0	0
AP1S1	1174	broad.mit.edu	37	7	100799942	100799942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:100799942C>T	uc003uxv.4	+	1	181	c.71C>T	c.(70-72)tCg>tTg	p.S24L	MIR4653_uc022aiy.1_5'Flank	NM_001283	NP_001274	P61966	AP1S1_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 1 subunit (AP1S1), mRNA.	24					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGGCCACTTCGGACAAGGAA	0.557000														27			22		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38917663	38917663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:38917663C>T	uc003jln.2	+	9	1703	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	434	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCAGAGGCCCCTGATGTCTGG	0.413000														38			45		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669680	119669680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:119669680C>T	uc003pym.1	-	1	993	c.551G>A	c.(550-552)aGc>aAc	p.S184N	MAN1A1_uc010kei.2_Missense_Mutation_p.S184N	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	184					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGGCTCCCGGCTCTCCACCCC	0.652000														20			21		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44228528	44228528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:44228528C>T	uc003tkl.2	-	0	495	c.25G>A	c.(25-27)Gag>Aag	p.E9K		NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	9					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTGGCGGCCTCCATCCTGGCT	0.567000														55			25		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147231317	147231317	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:147231317G>A	uc021ovl.1	-	0	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F	GJA5_uc001eps.1_Silent_p.F10F|GJA5_uc001ept.1_Silent_p.F10F	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	10					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTTCCTCCAGGAAATTTCCCA	0.512000														70			37		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096345	1096345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:1096345G>A	uc001lsx.1	+	35	6385	c.6358G>A	c.(6358-6360)Gac>Aac	p.D2120N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4486						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)	GGGCTGGGGCGACCCGCACTA	0.662000														36			19		0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57486350	57486351	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:57486350_57486351CT>TA	uc001smz.3	+	2	1455_1456	c.1077_1078CT>TA	c.(1075-1080)tccttg>tcTAtg	p.L360M		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	360	Necessary for nuclear localization (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ACTTGTCCTCCTTGAAGGGCTC	0.550000														27			20		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125061865	125061865	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:125061865G>A	uc003yqw.3	+	21	2948	c.2742G>A	c.(2740-2742)ttG>ttA	p.L914L	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	914	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGAATATTTGGGTGCCACAG	0.468000														24			42		0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46053336	46053336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:46053336G>A	uc010wlc.2	+	7	939	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	CDK5RAP3_uc002imq.1_Missense_Mutation_p.R27Q|CDK5RAP3_uc002imr.3_Missense_Mutation_p.R252Q|CDK5RAP3_uc002ims.3_Missense_Mutation_p.R165Q	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	252					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GTGGTGGAACGACCCCACCTC	0.602000														44			6		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968190	35968190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:35968190G>A	uc003jjv.2	-	2	435	c.242C>T	c.(241-243)tCa>tTa	p.S81L	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.S81L|UGT3A1_uc011cor.2_Missense_Mutation_p.S47L|UGT3A1_uc003jjy.2_Missense_Mutation_p.S27L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	81						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTTCAGGTGAAAACCACCT	0.318000														29			9		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76557814	76557814	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:76557814C>T	uc010dhp.2	-	11	1943	c.1818G>A	c.(1816-1818)ctG>ctA	p.L606L	DNAH17_uc002jvv.2_Silent_p.L308L	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGACGTGCTTCAGGTGTTTCA	0.642000														17			6		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842764	123842764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:123842764C>T	uc001lfv.3	+	3	1109	c.749C>T	c.(748-750)cCt>cTt	p.P250L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P250L|TACC2_uc010qtv.2_Missense_Mutation_p.P250L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	250						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAAGTGACCCCTGAGGCCCCT	0.627000														2			26		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068426	5068426	+	Missense_Mutation	SNP	G	A	A	rs146686931		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:5068426G>A	uc010qyv.2	+	0	671	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACATTCTCCGTGCTGTCTTC	0.448000														69			55		0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1586835	1586835	+	RNA	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:1586835G>A	uc001ahc.1	-	2		c.323C>T			CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron			P21127	CD11B_HUMAN	Homo sapiens cell division cycle 2-like 1 (PITSLRE proteins), mRNA (cDNA clone IMAGE:4121554), partial cds.						apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GTCTTCCATAGAGTCTTCTCT	0.552000														19			15		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105179258	105179258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:105179258C>T	uc004emd.3	+	20	3899	c.3596C>T	c.(3595-3597)cCa>cTa	p.P1199L	NRK_uc010npc.1_Missense_Mutation_p.P867L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1199							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGTAAAAAACCACTAATCCAC	0.388000										HNSCC(51;0.14)				9			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449181	179449181	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:179449181C>T	uc021vsy.1	-	259	57618	c.57393G>A	c.(57391-57393)aaG>aaA	p.K19131K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K12826K|TTN_uc021vta.1_Silent_p.K12759K|TTN_uc021vtb.1_Silent_p.K12634K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20058	Ig-like 108.						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)			TGTTTCTTTCCTTGCGTTCAA	0.443000														32			17		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142504958	142504958	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:142504958C>T	uc003ywi.2	-	3	569	c.488G>A	c.(487-489)tGg>tAg	p.W163*	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	163							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGTTTTCTCCCAGGTCTCCTC	0.612000														22			3		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748266	36748267	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:36748266_36748267CC>TT	uc001cae.4	+	2	326_327	c.102_103CC>TT	c.(100-105)agccga>agTTga	p.R35*	THRAP3_uc001caf.4_Nonsense_Mutation_p.R35*|THRAP3_uc001cag.1_Nonsense_Mutation_p.R35*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	35	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTCCCGAAGCCGATCTCTCTC	0.455000			T	USP6	aneurysmal bone cysts									57			39		0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338800	13338800	+	RNA	SNP	G	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:13338800G>C	uc003gms.3	+	0		c.3764G>C								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						Cagaggaagagaaaggtgaga	0.433000														2			5		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505387	228505387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:228505387G>A	uc009xez.1	+	51	13828	c.13784G>A	c.(13783-13785)cGt>cAt	p.R4595H	OBSCN_uc001hsn.3_Missense_Mutation_p.R4595H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4595	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TACCGCTTCCGTGTGGCAGCT	0.672000														59			37		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588422	93588422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:93588422C>T	uc010urc.2	-	3	1414	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	RGMA_uc002bsq.2_Missense_Mutation_p.D371N|RGMA_uc021svs.1_Missense_Mutation_p.D371N|RGMA_uc021svt.1_Missense_Mutation_p.D371N|RGMA_uc010boi.2_Missense_Mutation_p.D278N|RGMA_uc002bsr.2_Missense_Mutation_p.D278N|RGMA_uc021svu.1_Missense_Mutation_p.D371N|RGMA_uc002bss.2_Missense_Mutation_p.D387N	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	387					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)			AAGTTCACGTCGCCCGTGGTG	0.577000														8			5		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45795768	45795768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:45795768C>T	uc010gpt.1	+	5	924	c.824C>T	c.(823-825)aCc>aTc	p.T275I	TRPM2_uc002zet.1_Missense_Mutation_p.T275I|TRPM2_uc002zeu.1_Missense_Mutation_p.T275I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T275I|TRPM2_uc002zex.1_Missense_Mutation_p.T61I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	275						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGAACCTGACCTGCCTAGAC	0.597000														51			33		0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63353939	63353939	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:63353939G>C	uc002alm.3	+	6	908	c.717G>C	c.(715-717)ttG>ttC	p.L239F	TPM1_uc002alg.3_Missense_Mutation_p.L197F|TPM1_uc002alh.3_Intron|TPM1_uc002ali.3_Missense_Mutation_p.L197F|TPM1_uc002alj.3_Missense_Mutation_p.L197F|TPM1_uc002alk.3_Intron|TPM1_uc002all.3_Intron|TPM1_uc010uie.2_Missense_Mutation_p.L197F|TPM1_uc002alp.3_Missense_Mutation_p.L197F|TPM1_uc010uif.2_Intron|TPM1_uc002alr.3_Intron|TPM1_uc002als.3_Missense_Mutation_p.L161F|TPM1_uc010uig.2_Missense_Mutation_p.L161F|TPM1_uc002alt.3_Intron	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	197					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AAGAAGAATTGAAAACTGTGA	0.483000														98			4		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906650	38906650	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:38906650A>C	uc002hve.3	-	5	1218	c.1157T>G	c.(1156-1158)cTt>cGt	p.L386R		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	386	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCCTCCTATAAGGAGACAGTA	0.473000														112			99		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283073	63283073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:63283073C>T	uc001nxc.2	+	7	1096	c.755C>T	c.(754-756)cCt>cTt	p.P252L	LGALS12_uc001nxa.2_Missense_Mutation_p.P251L|LGALS12_uc001nxb.2_Missense_Mutation_p.P242L|LGALS12_uc001nxd.2_Missense_Mutation_p.P190L|LGALS12_uc001nxe.2_Missense_Mutation_p.P181L|LGALS12_uc009yot.2_Missense_Mutation_p.P211L	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	251	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCCCATGCTCCTGTGACACTC	0.597000														56			49		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44736600	44736600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:44736600C>T	uc003tln.3	+	14	2147	c.1988C>T	c.(1987-1989)tCg>tTg	p.S663L	OGDH_uc011kbx.2_Missense_Mutation_p.S659L|OGDH_uc011kby.2_Missense_Mutation_p.S513L|OGDH_uc003tlp.3_Missense_Mutation_p.S674L|OGDH_uc011kbz.2_Missense_Mutation_p.S458L|OGDH_uc003tlo.1_Missense_Mutation_p.S496L	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	663					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGTTTGGCTCGCTCCTGAAG	0.582000														60			49		0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2338753	2338753	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:2338753C>T	uc002lvs.3	+	3	452	c.372C>T	c.(370-372)gtC>gtT	p.V124V	SPPL2B_uc010dsw.1_Silent_p.V96V|SPPL2B_uc010dsy.1_Silent_p.V96V|SPPL2B_uc010dsz.1_Silent_p.V124V|SPPL2B_uc002lvr.3_Silent_p.V124V|SPPL2B_uc010dta.1_5'UTR|SPPL2B_uc002lvu.3_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	124	PA.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		GCCCCCAGGTCCCCCCGGGGG	0.642000														19			18		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208171	113208171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:113208171G>A	uc010mtz.3	-	25	4746	c.4409C>T	c.(4408-4410)tCc>tTc	p.S1470F	SVEP1_uc010mua.1_Missense_Mutation_p.S1470F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1470	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACTGCATAGGAGATTGGTGT	0.458000														74			58		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141762403	141762403	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:141762403C>T	uc003vwy.3	+	34	4212	c.4158C>T	c.(4156-4158)ttC>ttT	p.F1386F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1386	Glucoamylase.				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)	CAGACTTTTTCCGTAATTCAA	0.393000														14			15		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89151388	89151388	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:89151388T>C	uc021ryf.1	-	19	3202	c.2953A>G	c.(2953-2955)Aaa>Gaa	p.K985E	EML5_uc021ryg.1_Missense_Mutation_p.K985E|EML5_uc001xxh.1_Missense_Mutation_p.K124E	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	985						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGCCACTTTTATCCACTTCT	0.313000														80			47		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52323832	52323832	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:52323832G>A	uc003xqu.4	-	15	2141	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L	PXDNL_uc003xqt.4_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	680					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTCCACAGTGAGCCCCTGCT	0.512000														7			15		0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925230	118925230	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:118925230C>T	uc001puu.2	-	6	847	c.654G>A	c.(652-654)cgG>cgA	p.R218R	HYOU1_uc001put.2_Silent_p.R183R|HYOU1_uc010ryu.1_Silent_p.R238R|HYOU1_uc010ryv.1_Silent_p.R107R|HYOU1_uc001pux.3_Silent_p.R218R|HYOU1_uc010ryw.2_Non-coding_Transcript|HYOU1_uc001puw.1_Silent_p.R218R	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	218						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TAATATCTTTCCGGCGGAAGA	0.567000														81			56		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52951929	52951929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:52951929G>A	uc001vgo.3	-	4	2721	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	THSD1_uc001vgp.3_Missense_Mutation_p.P673S|THSD1_uc010tgz.2_Missense_Mutation_p.P347S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	726						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TAGGATTTAGGGAGAGGGTTT	0.537000														71			57		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123993685	123993685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:123993685C>T	uc001pzu.3	+	7	988	c.779C>T	c.(778-780)cCa>cTa	p.P260L	VWA5A_uc001pzr.3_Missense_Mutation_p.P260L|VWA5A_uc001pzs.3_Missense_Mutation_p.P260L|VWA5A_uc010sae.2_Missense_Mutation_p.P276L|VWA5A_uc001pzt.3_Missense_Mutation_p.P260L	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	260										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATGGGAGATCCATCTGCAATG	0.408000														37			21		0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156704242	156704242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:156704242G>A	uc001fpu.3	+	5	1712	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	RRNAD1_uc001fpv.3_Intron	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	360						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCGTCGGCCAGGCGTGCAGGG	0.602000														7			4		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157551	22157551	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:22157551G>A	uc021urr.1	-	3	434	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ZNF208_uc002nqo.1_Silent_p.F95F	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACTTTTTGGAAAGAATCTT	0.333000														19			12		0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201369527	201369528	+	Missense_Mutation	DNP	GG	AA	AA	rs144080666	byFrequency	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:201369527_201369528GG>AA	uc002uvs.3	-	2	832_833	c.315_316CC>TT	c.(313-318)gaccat>gaTTat	p.H106Y	KCTD18_uc002uvt.3_Missense_Mutation_p.H106Y|KCTD18_uc002uvu.1_Missense_Mutation_p.H106Y	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	106						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTGGCCAAATGGTCAGACAGGC	0.376000														47			31		0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1034917	1034917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:1034917C>T	uc003jbt.1	+	6	478	c.473C>T	c.(472-474)tCg>tTg	p.S158L	NKD2_uc010itf.1_Missense_Mutation_p.S158L	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	158	Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GTGGATGCCTCGGTCAACCAC	0.627000														56			28		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325120	31325120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:31325120G>A	uc010dmg.1	+	11	5363	c.5308G>A	c.(5308-5310)Gga>Aga	p.G1770R	ASXL3_uc002kxq.2_Missense_Mutation_p.G1477R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCCAGATTGGGAGCCAAGCT	0.517000														22			16		0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42384973	42384974	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:42384973_42384974TC>AT	uc002orv.3	+	4	792_793	c.607_608TC>AT	c.(607-609)tcc>ATc	p.S203I	CD79A_uc002oru.3_Missense_Mutation_p.S165I|ARHGEF1_uc002orw.1_5'Flank|ARHGEF1_uc002orx.3_5'Flank|ARHGEF1_uc002ory.3_5'Flank|ARHGEF1_uc002orz.3_5'Flank	NM_001783	NP_001774	P11912	CD79A_HUMAN	Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA.	203	ITAM.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TGAGGACATCTCCCGGGGCCTC	0.634000			"""O, S"""		DLBCL									17			14		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475982	108475982	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:108475982C>T	uc003dxh.2	-	0	149	c.51G>A	c.(49-51)ctG>ctA	p.L17L		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	17					cell proliferation	extracellular region	hormone activity	p.L17L(2)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CCGGGTTGATCAGCTGGAGAA	0.522000														18			21		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:40675107C>T	uc001zll.3	+	0	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	24						nucleus	protein binding	p.S24F(2)		central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GAGTGCGATTCCCACCCACTT	0.567000														34			25		0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722409	129722409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:129722409G>A	uc001qfe.1	+	1	93	c.32G>A	c.(31-33)gGg>gAg	p.G11E	TMEM45B_uc001qff.1_Missense_Mutation_p.G11E	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	11						integral to membrane		p.P10P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GCGCTTCCAGGGAGTTTCTTC	0.463000														41			30		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177605141	177605141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:177605141G>A	uc003ius.1	-	6	1629	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	400					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCACTATATGAAAATCCTGG	0.408000														47			38		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123912695	123912695	+	Silent	SNP	C	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:123912695C>A	uc004bkx.1	+	22	3928	c.3897C>A	c.(3895-3897)ccC>ccA	p.P1299P	CNTRL_uc004bky.1_Silent_p.P903P|CNTRL_uc004bla.1_Silent_p.P747P|CNTRL_uc010mvo.1_Intron|CNTRL_uc004blb.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1299	Pro-rich.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTCCACCCCCCAACTTCTCCA	0.547000														38			28		2.47511e-08	2.53684e-08	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91766303	91766303	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:91766303G>A	uc010aty.3	-	20	3901	c.3747C>T	c.(3745-3747)ggC>ggT	p.G1249G		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1249					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTGGTTCTCGCCCATGGCGA	0.652000														2			3		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96454787	96454787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:96454787G>A	uc001kjv.4	+	3	921	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CYP2C19_uc001kjw.4_Missense_Mutation_p.E199K|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	199					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TAACTTGATGGAAAAATTCAA	0.388000														8			21		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666002	157666002	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:157666002G>T	uc001fqz.4	-	6	1252	c.960C>A	c.(958-960)ttC>ttA	p.F320L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.F46L|FCRL3_uc001frb.3_Missense_Mutation_p.F320L|FCRL3_uc001frc.1_Missense_Mutation_p.F320L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	320	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGTGCCAGGAGAATGTGACAG	0.517000														70			50		3.07002e-29	3.18268e-29	1	1	0
DENND1C	79958	broad.mit.edu	37	19	6479890	6479890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:6479890G>A	uc002mfe.3	-	2	198	c.106C>T	c.(106-108)Cct>Tct	p.P36S	DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Intron	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	36	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAGTCTGGAGGGAACTGCCGC	0.647000														10			7		0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110104105	110104105	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:110104105T>C	uc009yxy.3	-	12	1754	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Missense_Mutation_p.T135A|RDX_uc009yya.3_Intron|RDX_uc001pks.3_Missense_Mutation_p.T16A|RDX_uc001pkt.3_Missense_Mutation_p.T136A|RDX_uc001pku.3_Missense_Mutation_p.T482A|RDX_uc010rwe.2_Missense_Mutation_p.T346A	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	482	Glu-rich.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCGTTTTCTGTTGGAGGAATG	0.458000														126			122		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454874	84454874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:84454874C>T	uc001vlk.3	-	0	1655	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	257	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAGTCCTGTTCGGTGGTTTCA	0.547000														43			29		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791228	237791228	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:237791228G>A	uc001hyl.1	+	40	6408	c.6288G>A	c.(6286-6288)ggG>ggA	p.G2096G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2096	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGCATTGGGGGTCTTGTTC	0.572000														22			15		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463950	104463950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:104463950G>A	uc004ema.3	-	3	1032	c.920C>T	c.(919-921)tCc>tTc	p.S307F	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.P310S	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	309						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGAGAAGGAGGAAAAAGGGCT	0.527000														2			23		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399761	76399761	+	Silent	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:76399761T>G	uc002jvm.3	+	6	1005	c.993T>G	c.(991-993)ctT>ctG	p.L331L	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Silent_p.L44L|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_Silent_p.L44L	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	331					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GCAACTCTCTTTTGACCCAGG	0.542000														73			49		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999715	55999715	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:55999715A>T	uc010rjc.2	-	0	947	c.947T>A	c.(946-948)tTt>tAt	p.F316Y		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATGGTGTAAAATATTGACAC	0.383000														88			71		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60023955	60023955	+	Silent	SNP	A	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:60023955A>T	uc002izo.3	-	29	6476	c.6399T>A	c.(6397-6399)gtT>gtA	p.V2133V		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	2133					androgen 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|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACTGTTCCAAAACAAACCTGA	0.393000														35			25		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708227	94708227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:94708227C>T	uc001ycs.1	+	9	1233	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	360						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AACCAGATTCCACCCCAAATC	0.333000														41			26		0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35051041	35051041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:35051041G>A	uc003tem.4	-	4	497	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	118						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTATAAATCCGGTACCAACTG	0.338000														62			3		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41736918	41736918	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:41736918G>A	uc010ehj.3	+	4	823	c.633G>A	c.(631-633)aaG>aaA	p.K211K	AXL_uc010ehi.1_Silent_p.K211K|AXL_uc010ehk.3_Silent_p.K211K	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	211	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATAACGCCAAGGGGGTCACCA	0.602000														113			82		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:145583069A>G	uc003zcc.2	+	1	280	c.116A>G	c.(115-117)aAa>aGa	p.K39R	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.K39R|SLC52A2_uc010mfy.2_Missense_Mutation_p.K39R|SLC52A2_uc011llc.2_Intron|SLC52A2_uc003zcd.2_Missense_Mutation_p.K39R	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	39						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGGTGGTCAAAGAGCTTCCA	0.647000														70			4		0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454930	29454930	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:29454930G>A	uc011dlq.2	-	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	250						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGCAGCACAGGAATCTAATGA	0.522000														8			19		0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10267246	10267247	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:10267246_10267247GG>AA	uc021vdr.1	+	6	928_929	c.877_878GG>AA	c.(877-879)ggc>AAc	p.G293N		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	233					DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGCAGTGGAAGGCATTTTCTTT	0.421000														104			67		0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	G	G	rs7247257		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:53116885A>G	uc002pzu.4	-	1	2177	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_uc002pzv.4_Silent_p.H311H|ZNF83_uc010eps.3_Silent_p.H283H|ZNF83_uc010ept.3_Silent_p.H311H|ZNF83_uc010epu.3_Silent_p.H311H|ZNF83_uc010epw.3_Silent_p.H311H|ZNF83_uc010epv.3_Silent_p.H311H|ZNF83_uc010epx.3_Silent_p.H283H|ZNF83_uc010epy.3_Silent_p.H311H|ZNF83_uc010epz.3_Silent_p.H283H|ZNF83_uc010eqb.2_Silent_p.H283H|ZNF83_uc021uyx.1_Silent_p.H311H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000														232			5		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103568549	103568549	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:103568549G>A	uc001ymk.3	+	1	565	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	163										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGGCCGAGAAGGCCTCGCGCA	0.652000														2			2		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766907	77766907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:77766907G>A	uc003yau.2	+	9	8137	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2539N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2539						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E2584K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAACTAGACGATAAAGAAGA	0.507000										HNSCC(33;0.089)				46			7		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898227	49898227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:49898227C>T	uc003cxt.1	-	7	890	c.697G>A	c.(697-699)Gat>Aat	p.D233N	CAMKV_uc011bcy.1_Missense_Mutation_p.D158N|CAMKV_uc003cxv.1_Missense_Mutation_p.D205N|CAMKV_uc003cxw.1_Missense_Mutation_p.D65N|CAMKV_uc003cxx.1_Missense_Mutation_p.D65N|CAMKV_uc003cxu.2_Missense_Mutation_p.D233N|CAMKV_uc011bcz.1_Missense_Mutation_p.D196N|CAMKV_uc011bda.1_Missense_Mutation_p.D190N|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	233	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGATTCTTATCATGGTTCTCA	0.498000														114			84		0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952489	14952489	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:14952489G>A	uc002mzx.1	-	0	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGTCTACGAAGGACAGGTTGG	0.522000														66			32		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12130073	12130073	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:12130073G>C	uc003nac.3	+	4	6336	c.6157G>C	c.(6157-6159)Gaa>Caa	p.E2053Q	HIVEP1_uc011diq.2_Intron	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2053					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAAGATAAAGAAAATTCCTT	0.303000														74			3		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66458601	66458602	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:66458601_66458602CC>TT	uc021xzk.1	+	27	4260_4261	c.3952_3953CC>TT	c.(3952-3954)cct>TTt	p.P1318F	MAST4_uc003jut.2_Missense_Mutation_p.P1129F|MAST4_uc003juw.3_Missense_Mutation_p.P1057F	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1321	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P1321S(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGCTCCACCCCTGACTTCCCA	0.559000														15			19		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25024078	25024078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:25024078C>T	uc003aan.1	+	13	1854	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	GGT1_uc003aas.1_Missense_Mutation_p.T456M|GGT1_uc003aat.1_Missense_Mutation_p.T456M|GGT1_uc003aau.2_Missense_Mutation_p.T456M|GGT1_uc003aav.2_Missense_Mutation_p.T456M|GGT1_uc003aaw.2_Missense_Mutation_p.T456M|GGT1_uc003aax.2_Missense_Mutation_p.T456M|GGT1_uc003aay.1_Missense_Mutation_p.T112M	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	456					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATGTGCCCGACGATCATGGTG	0.662000														154			4		0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114340551	114340551	+	Missense_Mutation	SNP	G	A	A	rs140048385		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:114340551G>A	uc001edq.3	-	1	847	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	271						nucleus		p.R270H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		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)		TACATTTTAAGGCGTCTTCCT	0.398000														89			59		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253052	124253052	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:124253052A>C	uc010sai.2	-	0	188	c.188T>G	c.(187-189)cTc>cGc	p.L63R	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGATTGAAGAGGAAATAGTA	0.393000														115			6		0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30693778	30693778	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:30693778C>T	uc002ynk.3	+	1	420	c.177C>T	c.(175-177)ttC>ttT	p.F59F	BACH1_uc002ynj.3_Silent_p.F59F|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	59	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GCAGTTACTTCCACTCAAGAA	0.502000														68			39		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856482	54856482	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:54856482G>A	uc002rxu.3	+	13	2460	c.2211G>A	c.(2209-2211)aaG>aaA	p.K737K	SPTBN1_uc002rxv.1_Silent_p.K737K|SPTBN1_uc002rxx.3_Silent_p.K724K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	737					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCATTCGGAAGAAGCGCCTGG	0.582000														38			27		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77409601	77409601	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:77409601A>T	uc001oyn.3	-	6	2766	c.2646T>A	c.(2644-2646)agT>agA	p.S882R	RSF1_uc001oym.3_Missense_Mutation_p.S630R	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	882	Poly-Glu.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGGCTTCTTCACTTTCCTTTT	0.428000														83			60		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32586368	32586368	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:32586368T>G	uc001wrl.3	+	2	3979	c.3740T>G	c.(3739-3741)tTc>tGc	p.F1247C	ARHGAP5_uc001wrm.3_Missense_Mutation_p.F1246C|ARHGAP5_uc001wrn.3_Missense_Mutation_p.F1247C|ARHGAP5_uc001wro.3_5'UTR|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	1247					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ACTAAGAACTTCAATCCACCA	0.333000														39			33		0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727835	36727835	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:36727835T>C	uc002odq.4	+	3	2016	c.493T>C	c.(493-495)Ttt>Ctt	p.F165L	ZNF146_uc010eet.3_Missense_Mutation_p.F165L|ZNF146_uc010eeu.3_Missense_Mutation_p.F165L|ZNF146_uc021ute.1_Missense_Mutation_p.F165L	NM_007145	NP_009076	Q15072	OZF_HUMAN	Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.	165					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGGAACAGCCTTTGGCCAGAA	0.418000														56			30		0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37627425	37627425	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:37627425G>A	uc003arc.3	-	4	411	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	98					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCACTTCTGGGAACCACTGGG	0.627000														29			40		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75587088	75587088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:75587088G>A	uc003kei.1	+	6	1314	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	394					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)		TGAGCTGATTGAAATTGAGAG	0.423000														41			34		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15260488	15260488	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:15260488C>T	uc001mlz.3	+	10	1372	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	INSC_uc001mly.3_Silent_p.L468L|INSC_uc001mma.3_Silent_p.L421L|INSC_uc010rcs.2_Silent_p.L456L|INSC_uc001mmb.3_Silent_p.L421L|INSC_uc001mmc.3_Silent_p.L379L	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	468					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CATGGGCATGCTGTCTGAAAA	0.592000														33			24		0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167343506	167343506	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:167343506C>T	uc001gec.3	+	6	734	c.495C>T	c.(493-495)ccC>ccT	p.P165P	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.P188P|POU2F1_uc010plh.2_Intron|POU2F1_uc001ged.3_Silent_p.P163P|POU2F1_uc001gef.3_Silent_p.P177P|POU2F1_uc001geg.3_Silent_p.P63P	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	165					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P165S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CGCAGATCCCCCTGTCTCAGC	0.562000														20			17		0	0	1	0	0
METTL19	152992	broad.mit.edu	37	4	8469812	8469812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:8469812G>A	uc003glg.2	+	8	1684	c.1666G>A	c.(1666-1668)Ggt>Agt	p.G556S	METTL19_uc003glf.1_Missense_Mutation_p.G315S|METTL19_uc003glh.1_Missense_Mutation_p.G164S	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	556					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						TCACTGTGACGGTCAGCAAGC	0.642000														13			9		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271303	109271303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:109271303G>A	uc001dvx.3	+	7	1419	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	FNDC7_uc010ova.2_Missense_Mutation_p.M240I	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	474	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CATTCTCCATGATTAATGTGC	0.423000														58			31		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080284	152080284	+	Silent	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:152080284T>G	uc009wne.1	-	2	5681	c.5409A>C	c.(5407-5409)ctA>ctC	p.L1803L	TCHH_uc001ezp.2_Silent_p.L1803L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1803	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGGCGTAGCTGTTCCT	0.577000														136			3		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658119	49658119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:49658119C>T	uc002pmv.3	-	0	563	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	126	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.E126G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCACCATGCTCTGCAAAGACC	0.602000														48			32		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44867637	44867637	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:44867637C>T	uc003cnx.4	+	20	2805	c.2656C>T	c.(2656-2658)Caa>Taa	p.Q886*	KIF15_uc010hiq.3_Nonsense_Mutation_p.Q789*|KIF15_uc010hir.3_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	886					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAGAAACCTCCAAAACTTCAA	0.373000														59			42		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615668	140615668	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:140615668C>T	uc003ljc.1	+	0	1731	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCACCTATTCGCCCTCAGGT	0.687000														132			90		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155282	22155282	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:22155282T>C	uc021urr.1	-	3	2703	c.2554A>G	c.(2554-2556)Aag>Gag	p.K852E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTACCTTATGTTTAGTA	0.373000														67			4		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463705	104463705	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:104463705A>G	uc004ema.3	-	3	1277	c.1165T>C	c.(1165-1167)Tca>Cca	p.S389P	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_3'UTR	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	391						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCCTCCGTGAAAAATTCACA	0.493000														30			141		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14029557	14029557	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr16:14029557C>T	uc002dce.2	+	7	1777	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*	ERCC4_uc010uyz.1_Nonsense_Mutation_p.Q140*	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	590					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	p.R589W(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTGTTCGGCAGCTTGAAAT	0.473000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					52			25		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588891	61588891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:61588891C>T	uc002yea.4	+	2	540	c.356C>T	c.(355-357)gCc>gTc	p.A119V	SLC17A9_uc002ydz.4_Missense_Mutation_p.A113V|SLC17A9_uc011aap.1_Missense_Mutation_p.A139V	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	119					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCCCACCTGGCCTTCATGACC	0.642000														24			21		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586930	26586930	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:26586930T>A	uc001mqw.3	-	2	830	c.557A>T	c.(556-558)aAa>aTa	p.K186I	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.K159I|MUC15_uc001mqy.3_Missense_Mutation_p.K186I	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	159						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATCAGGAGTTTTCACGGTGTC	0.453000														34			34		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454518	100454518	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:100454518C>T	uc003uwp.3	+	4	619	c.477C>T	c.(475-477)gtC>gtT	p.V159V	SLC12A9_uc003uwo.1_Silent_p.V70V|SLC12A9_uc003uwq.3_Silent_p.V70V|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	159						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCTCCGGGTCCTGCCCCAGG	0.687000														70			60		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912491	54912491	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:54912491C>T	uc001sgc.4	+	13	1474	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	NCKAP1L_uc010sox.2_Silent_p.I7I|NCKAP1L_uc010soy.2_Silent_p.I415I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	465					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.S464C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCGTCAGTATCCTCTCCTCTC	0.468000														54			28		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118344458	118344458	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:118344458C>T	uc001pta.3	+	2	2607	c.2584C>T	c.(2584-2586)Cga>Tga	p.R862*	MLL_uc001ptb.3_Nonsense_Mutation_p.R862*|MLL_uc001psz.1_Nonsense_Mutation_p.R895*|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	862					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTCCAAAGATCGAGATGCTGA	0.488000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									11			6		0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722390	129722390	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:129722390A>C	uc001qfe.1	+	1	74	c.13A>C	c.(13-15)Aag>Cag	p.K5Q	TMEM45B_uc001qff.1_Missense_Mutation_p.K5Q	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	5						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GGCAAATTTCAAGGGCCACGC	0.473000														34			22		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967982	49967982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:49967982C>T	uc002pnt.3	+	11	1647	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	ALDH16A1_uc010yar.2_Missense_Mutation_p.P460S|ALDH16A1_uc010yas.2_Missense_Mutation_p.P346S|ALDH16A1_uc010yat.2_Missense_Mutation_p.P348S	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	511							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCTCGCTGTTCCCTCAACCCT	0.612000														35			215		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766821	77766821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:77766821C>T	uc003yau.2	+	9	8051	c.7664C>T	c.(7663-7665)tCc>tTc	p.S2555F	ZFHX4_uc003yaw.1_Missense_Mutation_p.S2510F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2510						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGGGCAGTTCCCTCACTCAA	0.507000										HNSCC(33;0.089)				84			53		0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629909	9629909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:9629909G>A	uc003jem.1	-	0	555	c.236C>T	c.(235-237)tCt>tTt	p.S79F		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	79					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACAATTCGCAGAACACATGAT	0.398000														15			10		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25459515	25459515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:25459515G>A	uc001upt.4	-	12	3629	c.3376C>T	c.(3376-3378)Ccc>Tcc	p.P1126S	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1126					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGCTCCCTGGGAGAGGCAGCC	0.443000														81			37		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120114597	120114597	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:120114597G>A	uc003yoo.3	+	3	400	c.303G>A	c.(301-303)ggG>ggA	p.G101G		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	101	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GTGACAAAGGGGAAAAAGGTT	0.333000														49			15		0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283529	47283529	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:47283529C>T	uc009ylm.3	+	6	1198	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NR1H3_uc010rhk.2_Silent_p.L322L|NR1H3_uc009yll.2_Silent_p.L322L|NR1H3_uc001nek.3_Silent_p.L271L|NR1H3_uc001nen.4_Silent_p.L256L|NR1H3_uc001nem.3_Silent_p.L316L	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	316	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCACCTTCCTCAAGGATTTCA	0.493000														129			82		0	0	1	0	0
ZNF726	730087	broad.mit.edu	37	19	24102841	24102841	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:24102841G>A	uc021urw.1	+	2	296	c.183G>A	c.(181-183)gaG>gaA	p.E61E	AK125686_uc002nrp.1_Non-coding_Transcript|ZNF726_uc021urv.1_Silent_p.E61E	NM_001244038	NP_001230967	E9PLI7	E9PLI7_HUMAN	Homo sapiens zinc finger protein 726 (ZNF726), mRNA.	61					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										AAGAAAAAGAGCCCTGGAATA	0.413000														36			39		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36492156	36492156	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:36492156C>A	uc003omg.3	-	2	856	c.268G>T	c.(268-270)Gag>Tag	p.E90*	STK38_uc003omh.3_Nonsense_Mutation_p.E90*|STK38_uc003omi.3_Nonsense_Mutation_p.E90*	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	90	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAAGGACTCAAAATCTTCC	0.358000														17			54		2.01871e-26	2.088e-26	1	1	0
TUBGCP3	10426	broad.mit.edu	37	13	113174230	113174230	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:113174230G>A	uc001vse.1	-	14	2038	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	TUBGCP3_uc010tjq.1_Silent_p.I607I|TUBGCP3_uc001vsf.3_Silent_p.I617I	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	617					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCCTTCGCAGGATCTCAGGAC	0.592000														52			40		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631873	156631873	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:156631873G>T	uc003iov.3	+	6	1092	c.556G>T	c.(556-558)Gag>Tag	p.E186*	GUCY1A3_uc003iou.2_Nonsense_Mutation_p.E186*|GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.E186*|GUCY1A3_uc010iqd.3_Nonsense_Mutation_p.E185*|GUCY1A3_uc003iow.3_Nonsense_Mutation_p.E186*|GUCY1A3_uc003iox.3_Nonsense_Mutation_p.E186*|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Nonsense_Mutation_p.E186*|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Nonsense_Mutation_p.E186*	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	186					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L185F(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGGCAGGCTTGAGGACGCCTC	0.473000														22			16		2.31682e-05	2.34274e-05	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7420476	7420476	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:7420476C>T	uc003src.1	-	28	2340	c.2223G>A	c.(2221-2223)cgG>cgA	p.R741R	COL28A1_uc011jxe.1_Silent_p.R424R	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	741	Collagen-like 6.		R -> Q (in dbSNP:rs17167102).		cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCACATCGCCCCGTTCTCCGT	0.398000														133			38		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373339	62373339	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:62373339G>A	uc010rly.1	-	13	2078	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	EML3_uc001ntr.1_Silent_p.S562S|EML3_uc001nts.1_Silent_p.S562S|EML3_uc001ntt.1_Silent_p.S474S|EML3_uc001ntu.1_Silent_p.S590S			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	590						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						GGATTACAGGGGAGAAGCCCT	0.617000														57			44		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513234	4513234	+	Silent	SNP	C	T	T	rs145635295	by1000genomes	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:4513234C>T	uc002mar.1	-	2	696	c.696G>A	c.(694-696)gtG>gtA	p.V232V	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	232	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCACTGCCCCTG	0.567000														151			127		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876855	13876855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr5:13876855C>T	uc003jfd.2	-	21	3376	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1112	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTGTTTTCAGAAACATTC	0.353000									Kartagener syndrome					28			20		0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155004063	155004063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:155004063C>T	uc022cio.1	+	0	530	c.530C>T	c.(529-531)tCt>tTt	p.S177F	SPRY3_uc004fnq.1_Missense_Mutation_p.S177F	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	177	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCCTTTGCTCTGCTGAGAGC	0.582000														96			73		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513269	78513269	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:78513269A>T	uc001syp.3	+	14	3466	c.3293A>T	c.(3292-3294)aAa>aTa	p.K1098I	NAV3_uc001syo.3_Missense_Mutation_p.K1098I|NAV3_uc010sub.2_Missense_Mutation_p.K598I|NAV3_uc009zsf.3_Missense_Mutation_p.K106I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1098	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAATTCCAAAATCTGCTGCC	0.463000										HNSCC(70;0.22)				50			39		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3263716	3263716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:3263716G>A	uc022aqr.1	-	14	2489	c.2099C>T	c.(2098-2100)cCt>cTt	p.P700L	CSMD1_uc011kwj.2_Missense_Mutation_p.P93L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	701	Sushi 4.					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)		AGGAATGCCAGGATCATGGCA	0.388000														8			4		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115487076	115487076	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:115487076G>A	uc001efr.3	+	24	2252	c.2043_splice	c.e24+1	p.E681_splice	SYCP1_uc010owt.2_Splice_Site|SYCP1_uc001efq.3_Splice_Site_p.E681_splice|SYCP1_uc009wgw.3_Splice_Site_p.E681_splice	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	681					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTGGAAGAGGTGGGAAAAA	0.264000														28			18		0	0	1	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67812508	67812508	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:67812508G>A	uc001xjf.3	-	5	738	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D (ATP6V1D), mRNA.	145					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AGTTCCACCAGTAGTTCCACT	0.453000														42			35		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825015	52825015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:52825015C>T	uc010ydl.2	+	4	582	c.512C>T	c.(511-513)tCt>tTt	p.S171F	ZNF480_uc002pyv.3_Missense_Mutation_p.S94F|ZNF480_uc010ydm.2_Missense_Mutation_p.S128F|ZNF480_uc010epn.3_Missense_Mutation_p.S2F|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CAAGAAATGTCTTCCAGTGTC	0.353000														47			33		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855364	53855365	+	Missense_Mutation	DNP	CA	TG	TG			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:53855364_53855365CA>TG	uc010ydv.1	+	3	1553_1554	c.1436_1437CA>TG	c.(1435-1437)aca>aTG	p.T479M	ZNF845_uc010ydw.1_Missense_Mutation_p.T479M	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTTG	0.381000														147			5		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25435432	25435432	+	Silent	SNP	T	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr13:25435432T>G	uc001upr.3	+	26	3842	c.3801T>G	c.(3799-3801)acT>acG	p.T1267T	RNF17_uc010tdd.1_Silent_p.T1126T|RNF17_uc010tde.2_Silent_p.T1263T|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.T1206T|RNF17_uc010aac.3_Silent_p.T465T|RNF17_uc010aad.3_Silent_p.T319T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1267	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATGGATTCACTGAAAAGATTC	0.348000														221			60		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71060647	71060647	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:71060647G>A	uc003xyn.1	-	11	2628	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	NCOA2_uc011lfb.1_5'UTR	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	822					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCGTGTCTGGGAAAAGCTGTG	0.493000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			87		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329386	33329386	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:33329386G>A	uc002xav.3	-	11	7245	c.4674C>T	c.(4672-4674)tcC>tcT	p.S1558S	NCOA6_uc002xaw.3_Silent_p.S1558S|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Silent_p.S1558S|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1558					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATGCACAAGGGATGAACACA	0.448000														136			64		0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12452347	12452347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr18:12452347G>A	uc002kre.3	-	15	1966	c.1919C>T	c.(1918-1920)tCa>tTa	p.S640L	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.S506L|SPIRE1_uc010wzx.2_Missense_Mutation_p.S429L|SPIRE1_uc010wzy.2_Missense_Mutation_p.S626L	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	640						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AGGTCCCAATGAAAAGATAGG	0.483000														38			19		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834107	61834107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:61834107G>A	uc001jky.3	-	36	6870	c.6532C>T	c.(6532-6534)Ccc>Tcc	p.P2178S	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2178					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D2177Y(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAGCTGAGGGATCATAGCTC	0.473000														13			35		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29726376	29726376	+	Silent	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:29726376G>T	uc003afj.3	-	20	2944	c.2757C>A	c.(2755-2757)ccC>ccA	p.P919P	AP1B1_uc003afl.3_Silent_p.P892P|AP1B1_uc003afi.3_Silent_p.P912P|AP1B1_uc003afh.3_Silent_p.P116P|AP1B1_uc011ako.2_Silent_p.P472P	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	919					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGTGCAGCTGGGGTTGCCCG	0.687000														32			21		8.34094e-07	8.49122e-07	1	1	0
DLC1	10395	broad.mit.edu	37	8	13357560	13357560	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr8:13357560C>T	uc003wwm.2	-	1	465	c.21G>A	c.(19-21)aaG>aaA	p.K7K	DLC1_uc003wwn.3_Silent_p.K7K|DLC1_uc011kxy.2_Silent_p.K7K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	7					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						CCCAGCTTCTCTTTCTGATAG	0.413000														57			35		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61915896	61915896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:61915896G>A	uc001xfn.3	+	4	933	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	PRKCH_uc010tsa.2_Missense_Mutation_p.V49I	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	210					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CACCTGTGTCGTCCATAAACG	0.423000														89			4		0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39328223	39328223	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:39328223T>A	uc003gty.2	-	5	742	c.602A>T	c.(601-603)gAa>gTa	p.E201V	RFC1_uc003gtx.2_Missense_Mutation_p.E201V|RFC1_uc003gtz.2_Missense_Mutation_p.E85V	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	201					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCGATGGCTTCATCATTTAA	0.333000														31			24		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70988325	70988325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:70988325G>A	uc001swb.4	-	3	814	c.784C>T	c.(784-786)Cct>Tct	p.P262S	PTPRB_uc010sto.2_Missense_Mutation_p.P262S|PTPRB_uc010stp.2_Missense_Mutation_p.P262S|PTPRB_uc001swc.4_Missense_Mutation_p.P480S|PTPRB_uc001swa.4_Missense_Mutation_p.P480S|PTPRB_uc001swd.4_Missense_Mutation_p.P479S|PTPRB_uc009zrr.2_Missense_Mutation_p.P359S|PTPRB_uc001swe.3_Missense_Mutation_p.P480S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	262	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGTAGCCAGGGGTCAGCCCG	0.507000														50			36		0	0	1	0	0
RAN	5901	broad.mit.edu	37	12	131357380	131357380	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:131357380G>T	uc001uis.3	+	2	393	c.97_splice	c.e2-1	p.L33_splice	RAN_uc001uir.3_Splice_Site_p.L13_splice|RAN_uc010tbk.2_Splice_Site|RAN_uc010tbl.2_Splice_Site	NM_006325	NP_006316	P62826	RAN_HUMAN	Homo sapiens RAN, member RAS oncogene family (RAN), mRNA.	13					DNA metabolic process|RNA export from nucleus|androgen receptor signaling pathway|cell division|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	GTP binding|GTPase activity|androgen receptor binding|chromatin binding|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TTTTTCAACAGCTTGTATTGG	0.408000														87			51		4.88482e-21	5.04096e-21	1	1	0
PAPOLB	56903	broad.mit.edu	37	7	4899941	4899941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:4899941G>A	uc003snk.3	-	0	1685	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	500					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TGAAGCACATGATGAGGCAGC	0.413000														51			14		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220342718	220342718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:220342718G>A	uc010fwg.3	+	21	4918	c.4918G>A	c.(4918-4920)Gca>Aca	p.A1640T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1640	Protein kinase 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)		CAAGCCAAAGGCATCAGCGCG	0.637000														89			70		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275743	130275743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:130275743G>A	uc001qgg.4	-	8	2738	c.2380C>T	c.(2380-2382)Cct>Tct	p.P794S	ADAMTS8_uc001qgf.3_Missense_Mutation_p.P275S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	794	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACCTCGCCAGGGACTGTCAGG	0.567000														140			104		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43363004	43363004	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:43363004T>A	uc001zqq.3	-	4	714	c.648A>T	c.(646-648)gaA>gaT	p.E216D	UBR1_uc010udk.1_Missense_Mutation_p.E216D	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	216					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTATCTGGAGTTCAGGAGGCA	0.348000														103			58		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1047197	1047197	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:1047197C>T	uc002lqw.4	+	14	2118	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	ABCA7_uc010dsb.1_Silent_p.F491F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	629					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGGTCTTCCTGTTCTTGG	0.687000														21			9		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007138	94007138	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr14:94007138C>T	uc001ybv.1	+	9	1037	c.954C>T	c.(952-954)caC>caT	p.H318H	UNC79_uc001ybs.1_Silent_p.H318H|UNC79_uc001ybu.1_Silent_p.H256H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	495						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						ATGATAAACACGATCAGAGGC	0.433000														103			36		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851148	43851148	+	Missense_Mutation	SNP	G	A	A	rs145586123		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr20:43851148G>A	uc010ggz.3	+	1	932	c.875G>A	c.(874-876)cGt>cAt	p.R292H	SEMG2_uc002xnk.3_Missense_Mutation_p.R292H|SEMG2_uc002xnl.3_Missense_Mutation_p.R292H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292H(2)|p.R292L(2)|p.R292S(1)|p.S291P(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCGTCTTCACGTACAGAAGAA	0.398000														40			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434752	179434752	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:179434752G>A	uc021vsy.1	-	274	68628	c.68403C>T	c.(68401-68403)ctC>ctT	p.L22801L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L16496L|TTN_uc021vta.1_Silent_p.L16429L|TTN_uc021vtb.1_Silent_p.L16304L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23728	Ig-like 117.		A -> T (in a metastatic melanoma sample; somatic mutation).				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)			GATTTTCTATGAGTCCAGTTA	0.438000														24			21		0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30806301	30806301	+	Silent	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:30806301T>C	uc010cta.1	+	9	985	c.945T>C	c.(943-945)gaT>gaC	p.D315D	PSMD11_uc002hhm.3_Silent_p.D315D	NM_002815	NP_002806	O00231	PSD11_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 (PSMD11), mRNA.	315	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGCTCCGGGATGACCCAATCA	0.473000														117			75		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908172	103908172	+	Missense_Mutation	SNP	C	T	T	rs114077203	byFrequency	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:103908172C>T	uc001phr.2	+	0	865	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	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.	208					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)		CCCACTGGATCGGGAAGCTCA	0.493000														47			47		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35258649	35258649	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:35258649G>A	uc002yta.1	+	38	5170	c.4902G>A	c.(4900-4902)acG>acA	p.T1634T	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.T1629T|ITSN1_uc002ytj.2_Silent_p.T1573T|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1634	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCACCAAGACGATCCAGGACA	0.552000														45			25		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488793	20488793	+	RNA	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:20488793C>T	uc001ytf.1	+	1		c.276C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AGACCTCTCTCATGAGAACTT	0.413000														148			23		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696531	49696531	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr6:49696531T>C	uc021zai.1	-	7	807	c.719A>G	c.(718-720)aAa>aGa	p.K240R	CRISP3_uc003ozs.3_Missense_Mutation_p.K230R	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	217					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTCAAACTTTTACAGTTACT	0.353000														11			37		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87037492	87037492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:87037492G>A	uc003uiv.1	-	24	3216	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ABCB4_uc003uiw.1_Missense_Mutation_p.A1047V|ABCB4_uc003uix.1_Missense_Mutation_p.A1000V	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1047	ABC transporter 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGGCACGTTTGCTCGGGTGGG	0.468000														72			66		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22784267	22784267	+	RNA	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:22784267G>A	uc002nqu.4	+	5		c.701G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GAAGAGGAGGGAGCCCAGGAG	0.572000														5			7		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44836900	44836901	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr21:44836900_44836901GG>AA	uc002zdf.2	-	13	2200_2201	c.2073_2074CC>TT	c.(2071-2076)ggccct>ggTTct	p.P692S		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	692					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCAGCCCCAGGGCCATCACAGG	0.757000														0			3		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313343	48313343	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:48313343T>A	uc003toq.2	+	16	4104	c.4080T>A	c.(4078-4080)gaT>gaA	p.D1360E	ABCA13_uc010kyr.2_Missense_Mutation_p.D863E|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1360					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						TTTTAGAAGATGGCTTTTTAT	0.328000														12			8		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148907714	148907714	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:148907714C>T	uc003wfm.3	+	4	975	c.870C>T	c.(868-870)tcC>tcT	p.S290S	ZNF282_uc011kun.1_Silent_p.S290S|ZNF282_uc003wfn.3_Silent_p.S230S|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	290					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ATGCGTCCTCCCAGGTGAAGC	0.602000														28			10		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344433	56344433	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr11:56344433G>A	uc001niz.1	-	0	765	c.765C>T	c.(763-765)ctC>ctT	p.L255L	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACATGCAGAAGAGGGTTCCAT	0.448000														77			52		0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506200	131506200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:131506200C>T	uc001lkh.2	+	2	286	c.260C>T	c.(259-261)cCg>cTg	p.P87L		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	87								p.P87L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CTCGGAGGTCCGGAGCCCCTG	0.612000								Direct reversal of damage						7			22		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216253025	216253025	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:216253025C>T	uc002vfa.3	-	27	4519	c.4253_splice	c.e27-1	p.N1418_splice	FN1_uc002vfc.3_Splice_Site_p.N1327_splice|FN1_uc002vfe.3_Splice_Site_p.N1327_splice|FN1_uc002vff.3_Splice_Site_p.N1327_splice|FN1_uc002vfg.3_Splice_Site_p.N1327_splice|FN1_uc002vfh.3_Splice_Site_p.N1327_splice|FN1_uc002vfi.3_Splice_Site_p.N1418_splice|FN1_uc002vfj.3_Splice_Site_p.N1418_splice|FN1_uc002vfb.3_Splice_Site_p.N1327_splice|FN1_uc002vez.3_Splice_Site|FN1_uc010zjp.2_Splice_Site_p.N45_splice	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1417	Cell-attachment.|Fibronectin type-III 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAGGAGATCTGTAGGGGCA	0.438000														56			32		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43322700	43322700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:43322700G>A	uc002iin.3	+	21	3009	c.2809G>A	c.(2809-2811)Gat>Aat	p.D937N	FMNL1_uc002iiq.3_Missense_Mutation_p.D515N|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.D264N|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	937	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGTGCGGCAGGATGACTGCAT	0.642000														12			53		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715321	55715321	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:55715321G>A	uc010spi.2	+	1	939	c.939_splice	c.e1+1	p.*313_splice		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAAGCACATGAAATGGTATG	0.403000														58			51		0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130137800	130137800	+	Silent	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:130137800G>A	uc003vqg.3	+	3	541	c.285G>A	c.(283-285)agG>agA	p.R95R	MEST_uc003vqc.3_Silent_p.R86R|MEST_uc003vqd.3_Silent_p.R86R|MEST_uc022alp.1_Silent_p.R86R|MEST_uc003vqf.3_Silent_p.R86R|MEST_uc011kph.2_Silent_p.R81R	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	95					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGACCTTGAGGTTTCATCGGG	0.522000														322			89		0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169823502	169823502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:169823502G>A	uc001ggs.2	-	12	2276	c.2078C>T	c.(2077-2079)cCt>cTt	p.P693L	SCYL3_uc010plw.1_Missense_Mutation_p.P285L|SCYL3_uc001ggt.2_Missense_Mutation_p.P639L	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	693	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTCAGTTCAGGTAATATAAG	0.398000														53			35		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401708	89401708	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:89401708C>T	uc010upo.1	+	11	6266	c.5892C>T	c.(5890-5892)ctC>ctT	p.L1964L	ACAN_uc010upp.1_Silent_p.L1964L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1964					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)			TTTTAGAACTCAGTGGTGCTC	0.547000														23			28		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11790251	11790251	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr17:11790251A>C	uc002gne.3	+	56	11149	c.11081A>C	c.(11080-11082)aAg>aCg	p.K3694T	DNAH9_uc010coo.3_Missense_Mutation_p.K2988T|DNAH9_uc002gnf.3_Missense_Mutation_p.K6T|DNAH9_uc010vvh.1_Missense_Mutation_p.K47T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3694					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GACCTCAGCAAGATCCATCCA	0.488000														54			43		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860459	13860459	+	Silent	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:13860459C>T	uc003bye.1	-	3	1337	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	344					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ACGTGTACATCTCCGTGCGCT	0.607000														21			20		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052281	44052281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr10:44052281G>A	uc001jaw.4	-	1	1900	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	ZNF239_uc001jax.4_Missense_Mutation_p.S416F|ZNF239_uc009xmj.3_Missense_Mutation_p.S416F|ZNF239_uc009xmk.3_Missense_Mutation_p.S416F|ZNF239_uc021pph.1_Missense_Mutation_p.S416F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAGGAGTTTGGAACTCTGGCT	0.532000														10			20		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15172087	15172087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:15172087G>A	uc003zlr.2	-	19	2016	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	TTC39B_uc003zlq.2_Missense_Mutation_p.S563F|TTC39B_uc011lmp.2_Missense_Mutation_p.S495F|TTC39B_uc010mie.2_Missense_Mutation_p.S658F|TTC39B_uc011lmr.2_Missense_Mutation_p.S591F|TTC39B_uc011lmq.2_Missense_Mutation_p.S647F|TTC39B_uc003zlp.2_Missense_Mutation_p.S177F	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	594							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GGACTCCAGGGAGTAATCTTT	0.408000														41			23		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29383157	29383157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr22:29383157G>A	uc003aeg.3	+	1	394	c.394G>A	c.(394-396)Gac>Aac	p.D132N	ZNRF3_uc021wnq.1_Missense_Mutation_p.D32N	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	132						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCAGAATTGGACCCGAAACC	0.488000														123			12		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374607	39374607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:39374607C>T	uc010hhr.2	+	1	923	c.785C>T	c.(784-786)tCc>tTc	p.S262F	CCR8_uc003cjm.2_Missense_Mutation_p.S179F|CCR8_uc021wwe.1_Missense_Mutation_p.S262F	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	262					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.S262F(2)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTCCTCACTTCCTTGCACAGT	0.453000														27			25		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506847	11506847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr12:11506847C>T	uc001qzw.1	-	2	227	c.190G>A	c.(190-192)Gga>Aga	p.G64R	PRB1_uc001qzu.1_Missense_Mutation_p.G64R|PRB1_uc001qzv.1_Missense_Mutation_p.G64R	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	64	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGCCTCCTTGTGGGGGT	0.607000														229			123		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47584871	47584871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:47584871G>A	uc002pga.4	-	10	1377	c.1339C>T	c.(1339-1341)Ccg>Tcg	p.P447S	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	447							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGCTTACACGGGAAATCACGT	0.517000														12			71		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619788	48619788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr3:48619788C>T	uc003ctz.2	-	45	4604	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1535	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)		CGACCAGGCTCCCCCTGTGGA	0.607000														83			67		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225685482	225685482	+	Missense_Mutation	SNP	C	A	A	rs114476062	byFrequency	TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr1:225685482C>A	uc001hpc.1	-	14	2224	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S	ENAH_uc021pju.1_Missense_Mutation_p.A520S|ENAH_uc001hpd.1_Missense_Mutation_p.A570S|ENAH_uc001hpb.1_Missense_Mutation_p.A210S	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	591					T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTCCTCTATGCAGTATTTGAC	0.353000														66			10		7.93312e-07	8.1126e-07	1	1	0
GPR37	2861	broad.mit.edu	37	7	124404546	124404546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:124404546G>A	uc003vli.3	-	0	1136	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	162						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTACGCCCGGAAATGCCAGC	0.592000														139			106		0	0	1	0	0
FAM75D4	389761	broad.mit.edu	37	9	84547743	84547743	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:84547743G>T	uc004amh.2	+	3	2753	c.2667G>T	c.(2665-2667)atG>atT	p.M889I	AK097447_uc004ami.1_Intron|DQ577940_uc004amj.1_5'Flank	NM_001145197	NP_001138669	Q6ZUB0	YI020_HUMAN	Homo sapiens family with sequence similarity 75, member D4 (FAM75D4), mRNA.	889						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(57)|ovary(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						CCCAGGAGATGTCCTTCCTTA	0.423000														5			5		1.23904e-05	1.25571e-05	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													---	226	---	---	7	---					
NRXN1	9378	broad.mit.edu	37	2	50779986	50779987	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr2:50779986_50779987insC	uc021vhh.1	-	7	2418_2419	c.1497_1498insG	c.(1495-1500)aagaaafs	p.K499fs	NRXN1_uc002rxb.4_Frame_Shift_Ins_p.K171fs|NRXN1_uc021vhg.1_Frame_Shift_Ins_p.K539fs|NRXN1_uc021vhi.1_Frame_Shift_Ins_p.K535fs|NRXN1_uc021vhj.1_Frame_Shift_Ins_p.K495fs|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	499	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGCCAGTTTTCTTTGCATTCC	0.426													---	43	---	---	28	---					
KCTD8	386617	broad.mit.edu	37	4	44449940	44449942	+	In_Frame_Del	DEL	CGC	-	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr4:44449940_44449942delCGC	uc003gwu.3	-	0	883_885	c.599_601delGCG	c.(598-603)ggcgcg>gcg	p.G200del		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	200	Poly-Gly.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTGTCCTGCGcgccgccgccgcc	0.759										HNSCC(17;0.042)			---	4	---	---	2	---					
DNAJC2	27000	broad.mit.edu	37	7	102964992	102964992	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr7:102964992delT	uc003vbo.3	-	5	841	c.590delA	c.(589-591)aatfs	p.N197fs	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Frame_Shift_Del_p.N197fs|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTAGGAACATTTTTTTTATT	0.239													---	221	---	---	7	---					
GNAQ	2776	broad.mit.edu	37	9	80336308	80336321	+	Frame_Shift_Del	DEL	GATATTCTCGGTGT	-	-	rs1059527		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr9:80336308_80336321delGATATTCTCGGTGT	uc004akw.3	-	6	1066_1079	c.998_1011delACACCGAGAATATC	c.(997-1011)gacaccgagaatatcfs	p.D333fs	GNAQ_uc011lso.2_Frame_Shift_Del_p.D131fs|GNAQ_uc004akv.2_5'Flank	NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	333					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.T334T(2)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						AGACAAAGCGGATATTCTCGGTGTCTGTGGCGCA	0.519			Mis		uveal melanoma								---	51	---	---	16	---					
MEF2A	4205	broad.mit.edu	37	15	100252710	100252712	+	In_Frame_Del	DEL	CAG	-	-	rs72276751		TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr15:100252710_100252712delCAG	uc010urw.2	+	10	1617_1619	c.1258_1260delCAG	c.(1258-1260)cagdel	p.Q430del	MEF2A_uc002bve.3_In_Frame_Del_p.Q428del|MEF2A_uc002bvg.3_In_Frame_Del_p.Q420del|MEF2A_uc010urv.2_In_Frame_Del_p.Q360del|MEF2A_uc010bos.3_In_Frame_Del_p.Q420del|MEF2A_uc002bvf.3_In_Frame_Del_p.Q422del|MEF2A_uc002bvi.3_In_Frame_Del_p.Q420del|MEF2A_uc010bot.3_In_Frame_Del_p.Q352del	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	430	Gln/Pro-rich.			Missing (in Ref. 4; AAB17195/AAB17196).	BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ATCGGGCTTCcagcagcagcagc	0.606													---	5	---	---	3	---					
PPP1R15A	23645	broad.mit.edu	37	19	49377548	49377549	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chr19:49377548_49377549insG	uc002pky.4	+	1	1327_1328	c.1058_1059insG	c.(1057-1059)gagfs	p.E353fs		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	353	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACAGAGGAAGAGGAAGATGAGG	0.545													---	19	---	---	59	---					
HCFC1	3054	broad.mit.edu	37	X	153217426	153217428	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A3J4-06A-11D-A20D-08	TCGA-EE-A3J4-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79bc1848-92d8-4c66-94ab-2cdf2cbcb53d	91c402ba-d285-4495-8bb0-1231c47e51fa	g.chrX:153217426_153217428delTGC	uc004fjp.3	-	19	5652_5654	c.5124_5126delGCA	c.(5122-5127)cagcat>cat	p.Q1708del		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1708					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTGGTGATGCTGCTGCTGGG	0.660													---	4	---	---	2	---					
