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
ZFP64	55734	broad.mit.edu	37	20	50701141	50701141	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:50701141G>A	uc002xwk.3	-	8	2242	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	ZFP64_uc002xwj.3_Silent_p.S412S	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTGCCCCACGGAGACCAGGG	0.597000														69			15		0	0	0.038395	0	0
POTEC	388468	broad.mit.edu	37	18	14543019	14543019	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr18:14543019T>C	uc010dln.3	-	0	581	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	43								p.M43I(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAGTGCCCATGTTGCTCTTG	0.587000														107			4		0	0	0.009096	0	0
EXO1	9156	broad.mit.edu	37	1	242015641	242015641	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:242015641G>A	uc021plj.1	+	2	523	c.209G>A	c.(208-210)gGg>gAg	p.G70E	EXO1_uc001hzh.3_Missense_Mutation_p.G70E|EXO1_uc009xgq.3_Missense_Mutation_p.G70E|EXO1_uc021plk.1_Missense_Mutation_p.G70E	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	70	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.G70G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTATCTCATGGGATCAAGCCT	0.308000								Editing and processing nucleases						41			34		0	0	0.054565	0	0
DNAH8	1769	broad.mit.edu	37	6	38743591	38743591	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:38743591G>A	uc021yzh.1	+	12	1935	c.1826G>A	c.(1825-1827)gGa>gAa	p.G609E	DNAH8_uc003ooe.2_Missense_Mutation_p.G392E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCATAGAAGGAATAGATATT	0.294000														48			25		0	0	0.083992	0	0
TBX19	9095	broad.mit.edu	37	1	168282080	168282080	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:168282080C>T	uc001gfl.3	+	7	1238	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	TBX19_uc001gfj.4_Missense_Mutation_p.S264F|TBX19_uc001gfm.3_Missense_Mutation_p.S99F	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	396					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCTGTGCTCTCCACCCAAGCA	0.652000														22			21		0	0	0.055883	0	0
GPR158	57512	broad.mit.edu	37	10	25885644	25885644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:25885644C>T	uc001isj.3	+	9	2131	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	GPR158_uc001isk.3_Nonsense_Mutation_p.R66*	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	691						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACATGGGCCGATCTGGATC	0.443000														8			34		0	0	0.050027	0	0
PLD2	5338	broad.mit.edu	37	17	4725970	4725970	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:4725970C>T	uc002fzc.3	+	24	2739	c.2613C>T	c.(2611-2613)tcC>tcT	p.S871S	PLD2_uc002fzd.3_Silent_p.S860S	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	871					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCACGCGTTCCCTGCGGACTC	0.647000														26			23		0	0	0.069288	0	0
DNAH5	1767	broad.mit.edu	37	5	13717540	13717540	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:13717540C>T	uc003jfd.2	-	72	12631	c.12589G>A	c.(12589-12591)Gag>Aag	p.E4197K	DNAH5_uc003jfc.2_Missense_Mutation_p.E365K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4197	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q4196K(1)		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)					TTGCGCCTCTCCTGGACAGTG	0.552000									Kartagener syndrome					11			15		0	0	0.028581	0	0
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:100912815C>T	uc001pgh.2	-	6	3250	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_uc001pgg.2_Missense_Mutation_p.R217Q|PGR_uc001pgi.2_Missense_Mutation_p.R734Q|PGR_uc009yww.1_Non-coding_Transcript|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.	836	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	p.R836Q(2)|p.R836*(1)		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)	GGTTTGACTTCGTAGCCCTTC	0.383000														16			14		0	0	0.038395	0	0
ZNF135	7694	broad.mit.edu	37	19	58579245	58579245	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:58579245C>T	uc002qrg.3	+	3	1468	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	ZNF135_uc002qre.3_Missense_Mutation_p.P465S|ZNF135_uc002qrf.3_Missense_Mutation_p.P423S|ZNF135_uc010yhq.2_Missense_Mutation_p.P477S|ZNF135_uc010yhr.2_Missense_Mutation_p.P286S|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	477					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T489T(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGGAGAGAAGCCCTATGAGTG	0.557000														17			12		0	0	0.080935	0	0
VIT	5212	broad.mit.edu	37	2	37041325	37041325	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:37041325G>A	uc002rpl.3	+	16	2206	c.1904_splice	c.e16-1	p.G635_splice	VIT_uc002rpm.3_Splice_Site_p.G620_splice|VIT_uc010ezv.3_Splice_Site_p.G598_splice|VIT_uc010ezw.3_Splice_Site_p.G599_splice	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	620	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGTCCCCACAGGAGTGATCAC	0.512000														12			11		0	0	0.069234	0	0
COPA	1314	broad.mit.edu	37	1	160305037	160305037	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:160305037G>A	uc001fvv.4	-	3	698	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	COPA_uc009wti.3_Missense_Mutation_p.H102Y|COPA_uc009wtj.1_Missense_Mutation_p.H48Y	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	102					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTACATGATGAAAAAACGTG	0.378000														8			3		0	0	0.004672	0	0
LOC200726	200726	broad.mit.edu	37	2	207513416	207513416	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:207513416C>T	uc010fuh.1	+	2	619	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		GGACCTCCTTCCTAAAGAAGA	0.353000														1			3		0	0	0.009096	0	0
ZNF683	257101	broad.mit.edu	37	1	26688335	26688335	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:26688335G>A	uc001bmg.1	-	6	1500	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	ZNF683_uc001bmh.1_Missense_Mutation_p.P441L|ZNF683_uc009vsj.1_Missense_Mutation_p.P441L	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAGGCCAGGGGCAGCTGGGT	0.612000														34			28		0	0	0.108266	0	0
TRPC6	7225	broad.mit.edu	37	11	101375472	101375472	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:101375472C>T	uc001pgk.4	-	1	653	c.228G>A	c.(226-228)ggG>ggA	p.G76G	TRPC6_uc009ywy.3_Silent_p.G76G|TRPC6_uc009ywz.1_Silent_p.G76G	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	76					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTAACCTTCTCCCCTTCTCAC	0.468000														53			32		0	0	0.050027	0	0
MACC1	346389	broad.mit.edu	37	7	20198857	20198857	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:20198857C>T	uc003sus.4	-	4	1436	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	MACC1_uc010kug.3_Missense_Mutation_p.G376E	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	376					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATATTTGGGTCCATAAATTCC	0.398000														3			36		0	0	0.064281	0	0
SYCP1	6847	broad.mit.edu	37	1	115401288	115401288	+	Silent	SNP	A	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:115401288A>C	uc001efr.3	+	5	621	c.412A>C	c.(412-414)Aga>Cga	p.R138R	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.R138R|SYCP1_uc009wgw.3_Silent_p.R138R	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	138					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)		GCAAGAAAACAGAAAGATAAT	0.323000														31			22		0	0	0.083992	0	0
OR4A16	81327	broad.mit.edu	37	11	55110996	55110996	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:55110996G>A	uc010rie.2	+	0	320	c.320G>A	c.(319-321)gGt>gAt	p.G107D		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G107V(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTACTTGGTGGTGCAGAGGTC	0.448000														71			61		0	0	0.048971	0	0
AP5M1	55745	broad.mit.edu	37	14	57741245	57741245	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:57741245C>T	uc001xcv.3	+	1	785	c.358C>T	c.(358-360)Ccg>Tcg	p.P120S	AP5M1_uc001xcu.4_Missense_Mutation_p.P120S|AP5M1_uc010tri.2_Intron|AP5M1_uc010trj.2_Missense_Mutation_p.P17S	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA.	120					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GTCCCCTCGTCCGCCACTAAT	0.408000														19			14		0	0	0.020292	0	0
PRIM2	5558	broad.mit.edu	37	6	57472424	57472424	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:57472424C>T	uc003pdx.3	+	12	1297	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	405					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.I403I(1)|p.S404S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CAAGATCTCTCCTGGAGGGAT	0.448000														21			7		0	0	0.047766	0	0
MYH2	4620	broad.mit.edu	37	17	10441152	10441152	+	Splice_Site	SNP	A	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:10441152A>G	uc010coi.3	-	15	1545	c.1417_splice	c.e15-1	p.F473_splice	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Splice_Site_p.F473_splice|MYH2_uc010coj.3_Splice_Site_p.F473_splice	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	473	Myosin head-like.				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						AGGCTGTTGAACTAAATAAAT	0.358000														34			22		0	0	0.083992	0	0
SLC1A7	6512	broad.mit.edu	37	1	53559150	53559150	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:53559150G>A	uc021onn.1	-	5	948	c.780C>T	c.(778-780)atC>atT	p.I260I	SLC1A7_uc021onm.1_Silent_p.I188I|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.I260I|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	260						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCACCGCCACGATCTTCATGA	0.632000														16			10		0	0	0.069234	0	0
BRWD3	254065	broad.mit.edu	37	X	79947391	79947391	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:79947391A>C	uc004edt.3	-	29	3675	c.3412T>G	c.(3412-3414)Tgg>Ggg	p.W1138G	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.W967G|BRWD3_uc004edq.3_Missense_Mutation_p.W734G|BRWD3_uc010nmj.2_Missense_Mutation_p.W734G|BRWD3_uc004edr.3_Missense_Mutation_p.W808G|BRWD3_uc004eds.3_Missense_Mutation_p.W734G|BRWD3_uc004edo.3_Missense_Mutation_p.W734G|BRWD3_uc004edu.3_Missense_Mutation_p.W808G|BRWD3_uc004edv.3_Missense_Mutation_p.W734G|BRWD3_uc004edw.3_Missense_Mutation_p.W734G|BRWD3_uc004edx.3_Missense_Mutation_p.W734G|BRWD3_uc004edy.3_Missense_Mutation_p.W734G|BRWD3_uc004edz.3_Missense_Mutation_p.W808G|BRWD3_uc004eea.3_Missense_Mutation_p.W808G|BRWD3_uc004eeb.3_Missense_Mutation_p.W734G	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1138										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGAGCCCCCCACTCTCCTTCC	0.463000														1			13		0	0	0.020292	0	0
OR10H1	26539	broad.mit.edu	37	19	15918182	15918182	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:15918182G>A	uc002nbq.2	-	0	755	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGGCGGCCACGATGAAGGCAT	0.577000														31			15		0	0	0.062417	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200822531	200822531	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:200822531G>A	uc001gvl.3	+	13	4034	c.3764G>A	c.(3763-3765)cGt>cAt	p.R1255H	CAMSAP2_uc001gvk.3_Missense_Mutation_p.R1244H|CAMSAP2_uc001gvm.3_Missense_Mutation_p.R1228H	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1255						cytoplasm|microtubule	protein binding										ATTAAACCCCGTCCTCAAGTA	0.373000														15			18		0	0	0.043863	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342339	60342339	+	RNA	SNP	A	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:60342339A>C	uc010woz.2	-	13		c.1790T>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TGTTAAGCCTAGGGAAATTAT	0.478000														50			4		0	0	0.021553	0	0
ADCY9	115	broad.mit.edu	37	16	4016876	4016876	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:4016876G>A	uc002cvx.3	-	10	3501	c.2962C>T	c.(2962-2964)Ctc>Ttc	p.L988F		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	988					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 plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AAGAGCAGGAGAAAGAAGACG	0.592000														101			30		0	0	0.086207	0	0
COL4A6	1288	broad.mit.edu	37	X	107407869	107407869	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:107407869G>A	uc004enw.4	-	39	4136	c.4033C>T	c.(4033-4035)Cca>Tca	p.P1345S	COL4A6_uc004env.4_Missense_Mutation_p.P1344S|COL4A6_uc011msn.2_Missense_Mutation_p.P1320S|COL4A6_uc010npk.3_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1345	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGAAATCCTGGGTCTCCAGGT	0.597000									Alport syndrome with Diffuse Leiomyomatosis					4			66		0	0	0.048971	0	0
AK7	122481	broad.mit.edu	37	14	96953376	96953376	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:96953376G>A	uc001yfn.2	+	16	2160	c.2116G>A	c.(2116-2118)Gac>Aac	p.D706N		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	706	DPY-30.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCGACCCGAAGACCCTGTTGA	0.428000														18			9		0	0	0.080935	0	0
PAPD4	167153	broad.mit.edu	37	5	78915896	78915896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:78915896C>T	uc010jae.1	+	3	635	c.217C>T	c.(217-219)Cga>Tga	p.R73*	PAPD4_uc003kgb.2_Nonsense_Mutation_p.R73*|PAPD4_uc010jaf.1_Nonsense_Mutation_p.R73*|PAPD4_uc003kga.2_Nonsense_Mutation_p.R73*|PAPD4_uc003kfz.2_Nonsense_Mutation_p.R73*	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	73					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.R73*(2)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCCATTATTTCGAGGAAGGAA	0.338000														6			5		0	0	0.014758	0	0
CSMD3	114788	broad.mit.edu	37	8	113246697	113246697	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:113246697T>C	uc003ynu.3	-	67	10796	c.10637A>G	c.(10636-10638)aAa>aGa	p.K3546R	CSMD3_uc003yns.3_Missense_Mutation_p.K2748R|CSMD3_uc003ynt.3_Missense_Mutation_p.K3506R|CSMD3_uc011lhx.2_Missense_Mutation_p.K3377R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3546						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCTGGCTTTTATATACCCC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				149			49		0	0	0.048971	0	0
EPS15L1	58513	broad.mit.edu	37	19	16496019	16496019	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:16496019G>A	uc002ndx.3	-	20	2174	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.P613L|EPS15L1_uc002ndz.1_Missense_Mutation_p.P723L|EPS15L1_uc010xpf.1_Missense_Mutation_p.P626L|EPS15L1_uc002nea.1_Missense_Mutation_p.P723L|EPS15L1_uc010eah.1_Missense_Mutation_p.P725L	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	723	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGTTCCAAAGGGATCTGCAAT	0.527000														54			29		0	0	0.041601	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410204	105410205	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:105410204_105410205CC>TT	uc010axc.1	-	6	11703_11704	c.11583_11584GG>AA	c.(11581-11586)acggtc>acAAtc	p.V3862I	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V3762I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3862						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGAGCTTGGACCGTCAGGTCGG	0.614000														85			55		0	0	0.004672	0	0
ABCC9	10060	broad.mit.edu	37	12	21997416	21997416	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:21997416C>A	uc001rfh.3	-	26	3335	c.3315_splice	c.e26+1	p.Q1105_splice	ABCC9_uc001rfi.1_Splice_Site_p.Q1105_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1105	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGTTACTCACCTGATCAATG	0.328000														70			20		1.22574e-08	1.24901e-08	0.069288	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140215867	140215867	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:140215867G>A	uc003lhq.2	+	0	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.T633T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	644	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)			AGATCAGCACGACACGAGCCC	0.647000														39			32		0	0	0.050027	0	0
FSTL5	56884	broad.mit.edu	37	4	162402241	162402241	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:162402241G>A	uc003iqh.3	-	12	1975	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	FSTL5_uc003iqi.3_Silent_p.F512F|FSTL5_uc010iqv.3_Silent_p.F503F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	513						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAACATAAATGAACTTGTCTT	0.383000														50			31		0	0	0.050027	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579241	44579241	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:44579241G>A	uc003tlb.3	-	1	811	c.755C>T	c.(754-756)gCg>gTg	p.A252V	NPC1L1_uc011kbw.2_Missense_Mutation_p.A252V|NPC1L1_uc003tlc.3_Missense_Mutation_p.A252V|NPC1L1_uc003tld.3_Missense_Mutation_p.A252V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	252					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGAGCAGGTCGCCACGTCGTC	0.637000														8			95		0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179659761	179659761	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:179659761C>T	uc021vsy.1	-	6	1358	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	TTN_uc021vsz.1_Missense_Mutation_p.G378E|TTN_uc021vta.1_Missense_Mutation_p.G378E|TTN_uc021vtb.1_Missense_Mutation_p.G378E|TTN_uc002unb.2_Missense_Mutation_p.G378E|TTN_uc010frg.1_Missense_Mutation_p.G52E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	378							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)			ACCGTATCTCCCTTCCCATCT	0.577000														38			19		0	0	0.049695	0	0
SYT17	51760	broad.mit.edu	37	16	19194877	19194877	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:19194877C>T	uc002dfw.3	+	4	690	c.359C>T	c.(358-360)cCa>cTa	p.P120L	SYT17_uc002dfx.3_Missense_Mutation_p.P59L|SYT17_uc002dfy.3_Missense_Mutation_p.P116L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	120						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CCCAGCTCTCCACTCATCGAT	0.532000														43			41		0	0	0.042209	0	0
CFI	3426	broad.mit.edu	37	4	110687915	110687915	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:110687915G>A	uc011cft.2	-	1	331	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CFI_uc003hzr.4_Silent_p.L41L	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	41					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TATCGCAGGAGAGGTGAGTAT	0.418000														26			10		0	0	0.093190	0	0
DNAH11	8701	broad.mit.edu	37	7	21882282	21882282	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:21882282T>A	uc003svc.3	+	66	10864	c.10833T>A	c.(10831-10833)aaT>aaA	p.N3611K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3611	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTCCTCAATTTCACAGTCA	0.403000									Kartagener syndrome					3			21		0	0	0.069288	0	0
CADM4	199731	broad.mit.edu	37	19	44131905	44131905	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:44131905C>T	uc002oxc.1	-	1	151	c.102G>A	c.(100-102)gtG>gtA	p.V34V		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	34	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CACCCTCAGCCACTGTCACGT	0.512000														68			43		0	0	0.048971	0	0
CD2	914	broad.mit.edu	37	1	117297429	117297429	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:117297429G>A	uc001egu.4	+	1	267	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	CD2_uc010owz.1_Missense_Mutation_p.E80K|CD2_uc010oxa.1_Missense_Mutation_p.E80K	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	80	Ig-like V-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GACTTTCAAGGAAAAAGATAC	0.294000														9			7		0	0	0.029380	0	0
GPR143	4935	broad.mit.edu	37	X	9711604	9711604	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:9711604C>G	uc004cst.2	-	6	915	c.767_splice	c.e6+1	p.C256_splice		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	256					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AGAAAGGTTACCAAATAATTA	0.408000														3			16		0	0	0.033300	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		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.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(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)	TCGAGATTTCACTGTAGCTAGA	0.366000	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)|V600M(IGR1_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					7			51		0	0	0.004672	0	0
NLRP9	338321	broad.mit.edu	37	19	56223315	56223315	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:56223315G>A	uc002qly.3	-	7	2722	c.2694C>T	c.(2692-2694)acC>acT	p.T898T		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	898						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGCAGGCACGGGTGATCGGAC	0.547000														21			13		0	0	0.020292	0	0
MYT1	4661	broad.mit.edu	37	20	62848520	62848520	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:62848520G>A	uc002yii.3	+	10	2096	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	MYT1_uc002yih.3_Missense_Mutation_p.E280K|MYT1_uc002yij.3_Missense_Mutation_p.E210K	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	578					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAAGGAGCTGGAGAAGTTCTC	0.577000														82			16		0	0	0.033300	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														18			3		0	0	0.004672	0	0
SLC4A8	9498	broad.mit.edu	37	12	51847481	51847481	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:51847481C>T	uc001rys.1	+	4	750	c.572C>T	c.(571-573)tCa>tTa	p.S191L	SLC4A8_uc010sni.2_Missense_Mutation_p.S138L|SLC4A8_uc001rym.3_Missense_Mutation_p.S138L|SLC4A8_uc001ryn.3_Missense_Mutation_p.S138L|SLC4A8_uc001ryo.2_Missense_Mutation_p.S138L|SLC4A8_uc001ryp.1_Missense_Mutation_p.S138L|SLC4A8_uc010snj.2_Missense_Mutation_p.S218L|SLC4A8_uc001ryq.4_Missense_Mutation_p.S191L|SLC4A8_uc001ryr.3_Missense_Mutation_p.S191L|SLC4A8_uc010snk.2_Missense_Mutation_p.S138L	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	191					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAGAAATTTCAGGTAAGGTT	0.423000														14			10		0	0	0.069234	0	0
DNAH5	1767	broad.mit.edu	37	5	13920716	13920716	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:13920716C>T	uc003jfd.2	-	5	713	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	224	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224Q(4)		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)					GTCACACTTTCGAAGGTTCAC	0.393000									Kartagener syndrome					23			14		0	0	0.024245	0	0
GPHB5	122876	broad.mit.edu	37	14	63784435	63784435	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:63784435G>A	uc021rud.1	-	1	186	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA.	43						extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCTTGGCCAGGAAAGTAAACT	0.612000														18			11		0	0	0.069234	0	0
HGD	3081	broad.mit.edu	37	3	120366744	120366744	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:120366744G>A	uc003edw.3	-	6	909	c.449C>T	c.(448-450)tCa>tTa	p.S150L	HGD_uc003edv.3_Missense_Mutation_p.S9L	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	150					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GTCCCCATCTGAATTGTAAAA	0.353000														12			62		0	0	0.048971	0	0
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:124323233C>T	uc001uft.4	+	27	4804	c.4779C>T	c.(4777-4779)atC>atT	p.I1593I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1593	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I185M(2)|p.I1593M(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCACATGATCAAGGTCAGCC	0.557000														31			19		0	0	0.049695	0	0
RBP4	5950	broad.mit.edu	37	10	95360166	95360166	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:95360166G>A	uc001kit.3	-	3	423	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_006744	NP_006735	P02753	RET4_HUMAN	Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA.	113					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	TCTGGAGAAAGGAGGCTACGC	0.557000														7			79		0	0	0.048971	0	0
PXDNL	137902	broad.mit.edu	37	8	52359637	52359637	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:52359637G>A	uc003xqu.4	-	11	1553	c.1452C>T	c.(1450-1452)ggC>ggT	p.G484G		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	484	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.C483S(1)		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)				ATTCATATTGGCCTTGATCGT	0.473000														310			37		0	0	0.086207	0	0
PRB3	5544	broad.mit.edu	37	12	11420962	11420962	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:11420962C>T	uc001qzs.3	-	2	259	c.221G>A	c.(220-222)cGt>cAt	p.R74H	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	74	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.622000														249			76		0	0	0.048971	0	0
LACC1	144811	broad.mit.edu	37	13	44464257	44464257	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:44464257C>T	uc010acg.3	+	5	1626	c.1141C>T	c.(1141-1143)Cta>Tta	p.L381L	LACC1_uc001uzf.4_Silent_p.L381L	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.	381																	AAGGATTCTTCTAGAACAGGG	0.378000														17			14		0	0	0.038395	0	0
P2RX2	22953	broad.mit.edu	37	12	133195513	133195513	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:133195513G>A	uc001ukk.1	+	0	111	c.111G>A	c.(109-111)agG>agA	p.R37R	P2RX2_uc001uki.1_Silent_p.R37R|P2RX2_uc001ukj.1_Silent_p.R37R|P2RX2_uc001ukl.1_Silent_p.R37R|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Silent_p.R37R|P2RX2_uc001uko.1_Silent_p.R37R	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	37					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCGTGGTGAGGAACCGGCGCC	0.756000														28			13		0	0	0.038395	0	0
POTEG	404785	broad.mit.edu	37	14	19553803	19553804	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:19553803_19553804GG>AA	uc001vuz.1	+	0	439_440	c.387_388GG>AA	c.(385-390)atggag>atAAag	p.129_130ME>IK	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.	129								p.E130*(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGCTTTCATGGAGCCGAGGTA	0.594000														397			27		0	0	0.004672	0	0
ABCA12	26154	broad.mit.edu	37	2	215809775	215809775	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:215809775G>A	uc002vew.3	-	48	7513	c.7293C>T	c.(7291-7293)atC>atT	p.I2431I	ABCA12_uc002vev.3_Silent_p.I2113I|ABCA12_uc010zjn.2_Silent_p.I1358I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2431	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCTGAAATGATCTTCCAGA	0.388000														17			11		0	0	0.093190	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215150	32215150	+	Silent	SNP	C	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:32215150C>A	uc011alu.2	+	21	2011	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	DEPDC5_uc011als.2_Silent_p.P603P|DEPDC5_uc003als.3_Silent_p.P603P|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.P603P|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.P43P|DEPDC5_uc011alt.2_Silent_p.P575P	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	603					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTCGCTCCCTCTCGGATGC	0.547000														70			4		2.56e-06	2.60038e-06	0.009096	1	0
C14orf49	161176	broad.mit.edu	37	14	95932576	95932576	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:95932576G>C	uc001yei.4	-	3	333	c.318_splice	c.e3-1	p.S106_splice	C14orf49_uc010avi.3_Splice_Site_p.S106_splice|C14orf49_uc001yej.1_Splice_Site_p.S106_splice	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	106					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CACTCGATGCGGCTGTGGGCA	0.617000														31			18		0	0	0.043863	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219302	134219302	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:134219302C>T	uc001lll.4	+	1	1327	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	PWWP2B_uc009ybe.3_Missense_Mutation_p.S433L	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	433										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAGGCCAGATCGTCCGGCTCG	0.697000														3			22		0	0	0.069288	0	0
AKAP4	8852	broad.mit.edu	37	X	49958326	49958326	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:49958326G>A	uc004dow.1	-	4	1162	c.1038C>T	c.(1036-1038)gtC>gtT	p.V346V	AKAP4_uc004dou.1_Silent_p.V337V|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.V168V	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	346					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCATGAGAGAGACCATCATGT	0.483000														0			4		0	0	0.009096	0	0
GRIK4	2900	broad.mit.edu	37	11	120776100	120776100	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:120776100C>T	uc001pxn.2	+	12	1661	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	GRIK4_uc009zav.1_Silent_p.I458I|GRIK4_uc009zaw.1_Silent_p.I458I|GRIK4_uc009zax.1_Silent_p.I458I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	458					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGGCAGAGATCCTCCGATTCA	0.572000														75			55		0	0	0.048971	0	0
HAUS7	55559	broad.mit.edu	37	X	152722639	152722639	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:152722639G>A	uc004fhn.2	-	4	990	c.432C>T	c.(430-432)ctC>ctT	p.L144L	HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Silent_p.L144L|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.	144					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GGATGGTATCGAGCAACTGGT	0.577000														1			10		0	0	0.069234	0	0
KLHL26	55295	broad.mit.edu	37	19	18775198	18775198	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:18775198A>G	uc002njz.1	+	1	238	c.211A>G	c.(211-213)Aga>Gga	p.R71G		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	71	BTB.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GACTATTAACAGAGAGGCCTT	0.642000														51			29		0	0	0.050027	0	0
GARNL3	84253	broad.mit.edu	37	9	130111235	130111235	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:130111235C>T	uc011mae.2	+	16	1865	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	GARNL3_uc011mad.2_Silent_p.F466F	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCAGTAATTTCCCTCATGAAG	0.527000														31			23		0	0	0.076483	0	0
OVOL2	58495	broad.mit.edu	37	20	18022287	18022287	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:18022287C>T	uc002wqi.1	-	2	645	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	134					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTGACGGTTCAGCATGCGCT	0.602000														19			41		0	0	0.045515	0	0
NNMT	4837	broad.mit.edu	37	11	114183152	114183152	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:114183152G>A	uc001por.1	+	4	1012	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	NNMT_uc001pos.1_Missense_Mutation_p.E250K	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	250					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGCCAACAACGAAGGACTTTT	0.512000														50			30		0	0	0.050027	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144813	25144813	+	RNA	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:25144813G>A	uc001upm.3	+	3		c.354G>A								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		GTCCTGCCATGGGACCAGAAG	0.463000														16			15		0	0	0.028581	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627935	12627935	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:12627935C>T	uc004cuz.2	+	2	760	c.254C>T	c.(253-255)cCc>cTc	p.P85L	FRMPD4_uc011mij.2_Missense_Mutation_p.P77L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	85	PDZ.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAAGGGACCCCGTGCTGGGA	0.547000														4			38		0	0	0.111260	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815038	106815038	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:106815038G>A	uc003ymd.3	+	7	2751	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E641K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	910					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGTCAGCTACGAAAGAAGCAT	0.468000														45			7		0	0	0.038147	0	0
RGS22	26166	broad.mit.edu	37	8	101065100	101065100	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:101065100G>A	uc003yjb.1	-	9	1814	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	RGS22_uc003yja.1_Missense_Mutation_p.P359L|RGS22_uc003yjc.1_Missense_Mutation_p.P528L|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.P444L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	540					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTGTGGAAAAGGGTCAATATC	0.438000														326			46		0	0	0.048971	0	0
VWC2L	402117	broad.mit.edu	37	2	215440511	215440511	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:215440511G>A	uc002vet.2	+	3	766	c.636G>A	c.(634-636)tcG>tcA	p.S212S	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	212						extracellular region		p.S212P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CTCAGTGTTCGAAACGTGAAT	0.468000														69			55		0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179659276	179659276	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:179659276C>T	uc021vsy.1	-	7	1473	c.1248G>A	c.(1246-1248)gtG>gtA	p.V416V	TTN_uc021vsz.1_Silent_p.V416V|TTN_uc021vta.1_Silent_p.V416V|TTN_uc021vtb.1_Silent_p.V416V|TTN_uc002unb.2_Silent_p.V416V|TTN_uc010frg.1_Silent_p.V90V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	416	Ala-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTGTTTCACCTAGATTA	0.418000														38			17		0	0	0.043863	0	0
KCNH3	23416	broad.mit.edu	37	12	49951466	49951466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:49951466G>A	uc001ruh.1	+	14	3242	c.2982G>A	c.(2980-2982)tgG>tgA	p.W994*	KCNH3_uc010smj.1_Nonsense_Mutation_p.W934*	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	994	Pro-rich.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CAGCTTTCTGGACCTCCACCT	0.692000														25			15		0	0	0.038395	0	0
HOXA6	3203	broad.mit.edu	37	7	27187315	27187315	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:27187315C>T	uc003syo.2	-	0	79	c.54G>A	c.(52-54)caG>caA	p.Q18Q	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Intron|HOXA6_uc003syq.1_Intron	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						AGAAGGAGTCCTGGCCGCTGG	0.597000														8			61		0	0	0.048971	0	0
HPS6	79803	broad.mit.edu	37	10	103825888	103825888	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:103825888G>A	uc001kuj.3	+	0	765	c.657G>A	c.(655-657)tgG>tgA	p.W219*		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	219						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TACTCATCTGGAGCCCAGGCA	0.622000									Hermansky-Pudlak syndrome					15			68		0	0	0.048971	0	0
LUM	4060	broad.mit.edu	37	12	91502198	91502198	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:91502198C>T	uc001tbm.3	-	1	948	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	187					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAAGGTATTCGAGTGATTTA	0.428000														28			26		0	0	0.108266	0	0
SV2C	22987	broad.mit.edu	37	5	75621287	75621287	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:75621287C>T	uc003kei.1	+	12	2233	c.2099C>T	c.(2098-2100)cCc>cTc	p.P700L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	700					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)		AAATCAATCCCCATCCTGCTG	0.517000														41			21		0	0	0.062417	0	0
CGNL1	84952	broad.mit.edu	37	15	57820972	57820972	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:57820972C>T	uc010bfw.3	+	13	3353	c.3160C>T	c.(3160-3162)Cac>Tac	p.H1054Y	CGNL1_uc002aeg.3_Missense_Mutation_p.H1054Y	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1054						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCCAAGAGTCACCTCAAAGA	0.582000														23			13		0	0	0.105934	0	0
ZNF573	126231	broad.mit.edu	37	19	38229581	38229581	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:38229581G>A	uc002ohe.3	-	4	1879	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	ZNF573_uc010efs.2_Missense_Mutation_p.H517Y|ZNF573_uc002ohd.3_Missense_Mutation_p.H602Y|ZNF573_uc002ohf.3_Missense_Mutation_p.H546Y|ZNF573_uc002ohg.3_Missense_Mutation_p.H516Y|ZNF573_uc021utv.1_Missense_Mutation_p.H516Y	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H546Y(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACCAGTATGAATTTTCTGA	0.388000														15			16		0	0	0.024245	0	0
LOC643486	643486	broad.mit.edu	37	X	95592659	95592659	+	RNA	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:95592659G>A	uc010nmx.3	-	0		c.243C>T								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		ACTTTTCCATGAATCTGCATT	0.383000														2			6		0	0	0.029380	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526312	150526312	+	Missense_Mutation	SNP	G	A	A	rs150503018		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:150526312G>A	uc009wlw.3	+	4	1003	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	ADAMTSL4_uc001euw.3_Missense_Mutation_p.R282Q|ADAMTSL4_uc001eux.3_Missense_Mutation_p.R282Q|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.R282Q	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	282					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTCAGCCACGAAGGCCAAGT	0.662000														22			7		0	0	0.029380	0	0
DUOX2	50506	broad.mit.edu	37	15	45396251	45396251	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:45396251C>T	uc001zun.3	-	20	2764	c.2561_splice	c.e20-1	p.G854_splice	DUOX2_uc010bea.3_Splice_Site_p.G854_splice	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	854	EF-hand 1.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCTGGGGAGCCTGGGAAGAA	0.512000														5			11		0	0	0.069234	0	0
SVEP1	79987	broad.mit.edu	37	9	113238532	113238532	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:113238532T>C	uc010mtz.3	-	13	2888	c.2551A>G	c.(2551-2553)Aaa>Gaa	p.K851E	SVEP1_uc010mua.1_Missense_Mutation_p.K851E|SVEP1_uc004beu.2_Missense_Mutation_p.K851E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	851					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						AGGCAATATTTTTTGGTCAGG	0.363000														35			31		0	0	0.059317	0	0
abParts	0	broad.mit.edu	37	2	90139365	90139365	+	RNA	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:90139365C>T	uc010yts.2	+	30		c.3423C>T								Parts of antibodies, mostly variable regions.																		CATCACTTGTCGGGCGAGTCA	0.498000														62			48		0	0	0.048971	0	0
SPINT2	10653	broad.mit.edu	37	19	38780919	38780919	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:38780919C>T	uc002ohr.2	+	5	988	c.553_splice	c.e5+1	p.R185_splice	SPINT2_uc002ohs.2_Splice_Site_p.R128_splice	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	185					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCGCTGCTTCCGTAAGTCTG	0.562000														9			6		0	0	0.021553	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834499	101834499	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:101834499C>T	uc003knn.3	-	0	222	c.50G>A	c.(49-51)aGg>aAg	p.R17K	SLCO6A1_uc003kno.3_Missense_Mutation_p.R17K|SLCO6A1_uc003knp.3_Missense_Mutation_p.R17K|SLCO6A1_uc003knq.3_Missense_Mutation_p.R17K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	17						integral to membrane|plasma membrane	transporter activity			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)		CTCTACTCCCCTTGAGACTTC	0.677000														91			53		0	0	0.048971	0	0
OR1L8	138881	broad.mit.edu	37	9	125330256	125330256	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:125330256G>A	uc004bmp.1	-	0	501	c.501C>T	c.(499-501)ctC>ctT	p.L167L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACAGAAGGTGAGACGATTCA	0.502000														39			17		0	0	0.033300	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119551	17119551	+	RNA	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:17119551C>T	uc002zls.1	+	1		c.388C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		ACTTTATATTCCTTCGGAGTA	0.348000														17			23		0	0	0.030593	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														37			3		0	0	0.004672	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808760	18808760	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:18808760C>T	uc001bax.3	+	0	1337	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	KLHDC7A_uc009vpg.3_Missense_Mutation_p.R211C	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	429						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACAGGTCCGCCTGGATCT	0.607000														46			14		0	0	0.105934	0	0
CALB2	794	broad.mit.edu	37	16	71408689	71408689	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:71408689C>T	uc002faa.4	+	2	293	c.213C>T	c.(211-213)ttC>ttT	p.F71F	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Silent_p.F71F	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	71	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGAAGGAGTTCATGCAGAAGT	0.483000														21			9		0	0	0.058154	0	0
SLC16A14	151473	broad.mit.edu	37	2	230914621	230914621	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:230914621C>T	uc002vqd.2	-	3	719	c.260_splice	c.e3-1	p.G87_splice	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Splice_Site_p.G87_splice|SLC16A14_uc002vqf.3_Splice_Site_p.G87_splice	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	87						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ATGAAAGGGCCTGTCACAGAG	0.468000														12			13		0	0	0.055883	0	0
P2RX7	5027	broad.mit.edu	37	12	121622599	121622599	+	Silent	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:121622599T>C	uc001tzm.3	+	12	1934	c.1782T>C	c.(1780-1782)ccT>ccC	p.P594P	P2RX7_uc001tzn.3_Silent_p.P504P|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_Silent_p.P305P|P2RX7_uc001tzq.3_Silent_p.P424P	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	594						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAAGAGTCCTTACTGAAgcc	0.602000														16			16		0	0	0.024245	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:106814408G>A	uc003ymd.3	+	7	2121	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E431K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	700					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCGGCACGAAACATACAT	0.488000														74			16		0	0	0.038395	0	0
DSPP	1834	broad.mit.edu	37	4	88534195	88534195	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:88534195G>A	uc003hqu.3	+	3	977	c.857G>A	c.(856-858)gGg>gAg	p.G286E		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	286					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CAGGACCATGGGAAAGAAGAT	0.428000														24			11		0	0	0.093190	0	0
KIF4B	285643	broad.mit.edu	37	5	154393562	154393562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:154393562C>T	uc010jih.1	+	0	303	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	48	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGATAAATCCTTCACCTAC	0.488000														20			10		0	0	0.058154	0	0
RGS7	6000	broad.mit.edu	37	1	241094032	241094032	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:241094032C>T	uc001hyv.2	-	5	700	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	RGS7_uc010pyh.2_Missense_Mutation_p.E98K|RGS7_uc010pyj.1_Missense_Mutation_p.E40K|RGS7_uc001hyu.2_Missense_Mutation_p.E124K|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.E124K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	124					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGTGTTTTCCGGCTCCCAA	0.383000														74			30		0	0	0.050027	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348955	47348955	+	RNA	SNP	T	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:47348955T>G	uc001cqo.1	-	4		c.547A>C			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GGCAATGTGTTCCTCCCATTT	0.463000														19			10		0	0	0.049695	0	0
SPAG17	200162	broad.mit.edu	37	1	118628610	118628610	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:118628610G>A	uc001ehk.2	-	12	1765	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	566						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCATGGTGGGGGTAGAGGGAA	0.418000														17			16		0	0	0.024245	0	0
OXA1L	5018	broad.mit.edu	37	14	23240112	23240112	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:23240112C>T	uc001wgn.2	+	6	1113	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	OXA1L_uc001wgp.2_Silent_p.F295F	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	311					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CCATGCATTTCCCCACGGTAT	0.512000														29			21		0	0	0.055883	0	0
OR10T2	128360	broad.mit.edu	37	1	158368662	158368662	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:158368662C>T	uc010pih.2	-	0	595	c.595G>A	c.(595-597)Gct>Act	p.A199T		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CTAAATAAAGCCAGCTCTTTC	0.448000														15			10		0	0	0.058154	0	0
ZNF30	90075	broad.mit.edu	37	19	35434150	35434150	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:35434150A>G	uc010edq.1	+	4	661	c.283A>G	c.(283-285)Atc>Gtc	p.I95V	ZNF30_uc002nxf.2_Missense_Mutation_p.I13V|ZNF30_uc010edp.1_Missense_Mutation_p.I94V|ZNF30_uc010edr.1_Missense_Mutation_p.I95V	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AGATGATACAATCGGCTGTAA	0.313000														3			3		0	0	0.004672	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930261	47930261	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:47930261C>T	uc003tny.2	-	15	2588	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	852	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATTGTGCCTCAAAGGAAACA	0.592000														9			62		0	0	0.048971	0	0
RNF141	50862	broad.mit.edu	37	11	10546787	10546787	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:10546787T>C	uc001mis.1	-	3	539	c.386A>G	c.(385-387)gAa>gGa	p.E129G	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	129							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		GGATGAGTTTTCATCAGGTTC	0.358000														27			22		0	0	0.069288	0	0
ZNF267	10308	broad.mit.edu	37	16	31927748	31927748	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:31927748C>T	uc002ecs.4	+	3	2387	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	726					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGCCTTTAACTCTAGGTCAT	0.388000														15			14		0	0	0.105934	0	0
KCNH5	27133	broad.mit.edu	37	14	63246607	63246607	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:63246607C>T	uc001xfx.3	-	9	1909	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	KCNH5_uc001xfy.3_Intron|KCNH5_uc001xfz.1_Missense_Mutation_p.E562K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	620					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGGTGGTTTCCTTCCAGAAG	0.433000														18			15		0	0	0.024245	0	0
PROKR1	10887	broad.mit.edu	37	2	68882087	68882087	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:68882087G>C	uc010yqj.2	+	1	721	c.561G>C	c.(559-561)tgG>tgC	p.W187C	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	187						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTGGTGTGGACGGTGTCCA	0.557000														40			31		0	0	0.054565	0	0
RGS7	6000	broad.mit.edu	37	1	240969562	240969562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:240969562C>T	uc001hyt.2	-	7	697	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	RGS7_uc010pyh.2_Missense_Mutation_p.E357K|RGS7_uc010pyj.1_Missense_Mutation_p.E299K|RGS7_uc001hyu.2_Missense_Mutation_p.E383K|RGS7_uc009xgn.1_Missense_Mutation_p.E330K|RGS7_uc001hyv.2_Missense_Mutation_p.E383K|RGS7_uc001hyw.2_Missense_Mutation_p.E383K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	383					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGCCATATTTCCTGAACTCTT	0.473000														38			18		0	0	0.043863	0	0
NLRP3	114548	broad.mit.edu	37	1	247588006	247588006	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:247588006G>A	uc001icr.3	+	4	1399	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	NLRP3_uc001ics.3_Missense_Mutation_p.G421R|NLRP3_uc001icu.3_Missense_Mutation_p.G421R|NLRP3_uc001icw.3_Missense_Mutation_p.G421R|NLRP3_uc001icv.3_Missense_Mutation_p.G421R|NLRP3_uc010pyw.2_Missense_Mutation_p.G419R|NLRP3_uc001ict.1_Missense_Mutation_p.G419R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	421	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGTGTGCACTGGACTGAAACA	0.572000														28			16		0	0	0.038395	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471383	47471383	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:47471383A>G	uc001rpm.3	-	2	2058	c.1403T>C	c.(1402-1404)tTt>tCt	p.F468S	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.F468S|AMIGO2_uc001rpl.3_Missense_Mutation_p.F468S|AMIGO2_uc021qxg.1_Missense_Mutation_p.F468S	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	468					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGGTTCCAAAAACACCACTCT	0.547000														14			12		0	0	0.080935	0	0
AX747261	0	broad.mit.edu	37	9	99884591	99884592	+	RNA	DNP	CC	TT	TT			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:99884591_99884592CC>TT	uc004aww.1	-	1		c.1202_1203GG>AA								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		CGTTTAAACCCCATGTTTTCAA	0.441000														6			9		0	0	0.004672	0	0
SALL4	57167	broad.mit.edu	37	20	50406949	50406949	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:50406949G>A	uc002xwh.4	-	1	2174	c.2073C>T	c.(2071-2073)atC>atT	p.I691I	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	691					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCTACATCGATGCTTTCGA	0.582000														43			14		0	0	0.028581	0	0
CSMD3	114788	broad.mit.edu	37	8	113585876	113585876	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:113585876C>T	uc003ynu.3	-	23	4055	c.3896G>A	c.(3895-3897)gGa>gAa	p.G1299E	CSMD3_uc003yns.3_Missense_Mutation_p.G571E|CSMD3_uc003ynt.3_Missense_Mutation_p.G1259E|CSMD3_uc011lhx.2_Missense_Mutation_p.G1195E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1299	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATCTTTTCCATCATAAAT	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				61			9		0	0	0.047766	0	0
C12orf12	196477	broad.mit.edu	37	12	91348040	91348040	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:91348040C>T	uc001tbj.3	-	0	914	c.480G>A	c.(478-480)cgG>cgA	p.R160R		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	160								p.P159P(3)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCGGGCTCCGCGGGTAGG	0.697000														20			16		0	0	0.028581	0	0
LOC390660	390660	broad.mit.edu	37	15	82620400	82620400	+	RNA	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:82620400T>C	uc021ssl.1	+	18		c.3880T>C			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		GACCCAAGGGTCAGCCTGAGT	0.672000														11			4		0	0	0.021553	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229659	140229659	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:140229659G>A	uc003lhu.2	+	0	2303	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	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_uc003lht.1_Missense_Mutation_p.E527K	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	541	Cadherin 5.				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)			GGACCACGAGGAGCTGGAGCT	0.682000														88			51		0	0	0.048971	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816008	23816008	+	Silent	SNP	A	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:23816008A>C	uc003gqs.3	-	7	1218	c.1098T>G	c.(1096-1098)ggT>ggG	p.G366G	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	366					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CCTCGTGTCCACCAGTGAGGA	0.478000														54			46		0	0	0.042209	0	0
CCDC164	92749	broad.mit.edu	37	2	26677603	26677603	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:26677603C>T	uc002rhg.2	+	14	2082	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	670										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						CACAGTGATCCCTTCCTCCAA	0.597000														35			17		0	0	0.033300	0	0
CA10	56934	broad.mit.edu	37	17	49713368	49713368	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:49713368C>T	uc002itv.4	-	7	1391	c.655G>A	c.(655-657)Gat>Aat	p.D219N	CA10_uc002itw.4_Missense_Mutation_p.D213N|CA10_uc002itx.4_Missense_Mutation_p.D213N|CA10_uc002ity.4_Missense_Mutation_p.D213N|CA10_uc002itz.2_Missense_Mutation_p.D213N	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	213					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AAATATGCATCATCTAGAGAA	0.363000														20			17		0	0	0.038395	0	0
MECOM	2122	broad.mit.edu	37	3	168819869	168819869	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:168819869C>T	uc011bpj.1	-	10	3153	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E	MECOM_uc010hwk.1_Missense_Mutation_p.G743E|MECOM_uc003ffj.3_Missense_Mutation_p.G794E|MECOM_uc003ffi.3_Missense_Mutation_p.G729E|MECOM_uc011bpi.1_Missense_Mutation_p.G721E|MECOM_uc003ffn.3_Missense_Mutation_p.G729E|MECOM_uc003ffk.2_Missense_Mutation_p.G720E|MECOM_uc003ffl.2_Missense_Mutation_p.G880E|MECOM_uc011bpk.1_Missense_Mutation_p.G729E|MECOM_uc010hwn.2_Missense_Mutation_p.G908E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.V917V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCGCTCCTTTCCCTTCCGCAG	0.502000														6			11		0	0	0.080935	0	0
ZNF347	84671	broad.mit.edu	37	19	53645800	53645800	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:53645800G>A	uc002qbc.2	-	4	711	c.284C>T	c.(283-285)tCc>tTc	p.S95F	ZNF347_uc002qbb.2_Missense_Mutation_p.S94F|ZNF347_uc010eql.2_Missense_Mutation_p.S95F	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TACAAATTCGGAAGAGAGAGC	0.333000														4			3		0	0	0.009096	0	0
FBXL7	23194	broad.mit.edu	37	5	15928186	15928186	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:15928186C>T	uc003jfn.1	+	2	796	c.315C>T	c.(313-315)tcC>tcT	p.S105S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	105					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGCTCGCCTCCAGACCCCAGA	0.687000														6			5		0	0	0.014758	0	0
SPATA6	54558	broad.mit.edu	37	1	48861019	48861019	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:48861019G>A	uc001crr.2	-	7	984	c.788C>T	c.(787-789)cCc>cTc	p.P263L	SPATA6_uc001crs.2_Missense_Mutation_p.P263L|SPATA6_uc010omv.2_Missense_Mutation_p.P249L	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	263					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.P263H(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGGACTTGGGGGATCAACCTA	0.413000														9			6		0	0	0.021553	0	0
OPRK1	4986	broad.mit.edu	37	8	54147522	54147522	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:54147522G>A	uc003xrh.1	-	1	782	c.407C>T	c.(406-408)tCc>tTc	p.S136F	OPRK1_uc022aup.1_Missense_Mutation_p.S16F|OPRK1_uc003xri.1_Missense_Mutation_p.S136F|OPRK1_uc010lyc.1_Missense_Mutation_p.S47F	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	136					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTAATCAATGGAAATTACTAT	0.473000														79			10		0	0	0.058154	0	0
UTP14C	9724	broad.mit.edu	37	13	52604668	52604668	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:52604668C>T	uc001vgb.3	+	1	2290	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Silent_p.P576P	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	576					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGGCAGTTCCCACAATAATAG	0.473000														37			15		0	0	0.024245	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675569	77675569	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:77675569C>T	uc011cbx.2	+	6	4886	c.3933C>T	c.(3931-3933)tcC>tcT	p.S1311S	SHROOM3_uc003hkg.3_Silent_p.S1089S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1311					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTGATTCCTCCGTTCCTAGTG	0.577000														46			30		0	0	0.034045	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664910	19664910	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:19664910G>A	uc002wrl.3	+	10	1189	c.992G>A	c.(991-993)cGa>cAa	p.R331Q		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	331						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTGGCCTTCGAATCATGATA	0.542000														61			24		0	0	0.069288	0	0
THOC2	57187	broad.mit.edu	37	X	122755259	122755259	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:122755259G>A	uc004etu.3	-	30	3997	c.3965C>T	c.(3964-3966)cCg>cTg	p.P1322L	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.P143L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1322	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCAGACTTCGGCGTTCTTTC	0.398000														6			40		0	0	0.104719	0	0
SCN10A	6336	broad.mit.edu	37	3	38768437	38768437	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:38768437C>T	uc003ciq.3	-	15	2747	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	916			R -> W (found in a renal cell carcinoma sample; somatic mutation).		sensory perception	voltage-gated sodium channel complex		p.R916W(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACCTGGATCCGTGCCAGGGC	0.587000														16			83		0	0	0.048971	0	0
POLR3A	11128	broad.mit.edu	37	10	79741291	79741291	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:79741291G>A	uc001jzn.3	-	28	3919	c.3786C>T	c.(3784-3786)gcC>gcT	p.A1262A		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1262					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTGTCCGGGCGGCCTCGATGC	0.552000														41			227		0	0	0.048971	0	0
MYPN	84665	broad.mit.edu	37	10	69966583	69966583	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:69966583C>T	uc001jnm.4	+	19	3901	c.3716C>T	c.(3715-3717)tCa>tTa	p.S1239L	MYPN_uc001jnn.4_Missense_Mutation_p.S964L|MYPN_uc001jno.4_Missense_Mutation_p.S1239L|MYPN_uc009xpt.3_Missense_Mutation_p.S1239L|MYPN_uc010qit.2_Missense_Mutation_p.S945L|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1239	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCAAGAAATCAGACGCTGGA	0.483000														8			74		0	0	0.048971	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683179	9683179	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:9683179C>T	uc010vvb.2	-	2	457	c.444G>A	c.(442-444)atG>atA	p.M148I	DHRS7C_uc010cof.3_Missense_Mutation_p.M147I	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	148						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						AATTGGCATCCATGATCTTTT	0.488000														9			5		0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179585787	179585787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:179585787C>T	uc021vsy.1	-	75	19452	c.19227G>A	c.(19225-19227)tgG>tgA	p.W6409*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.W3070*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7336	Ig-like 45.						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)			TGTTGTATTTCCAACTTTCAT	0.413000														45			24		0	0	0.083992	0	0
PLCB1	23236	broad.mit.edu	37	20	8678380	8678380	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:8678380G>A	uc002wnb.3	+	10	1120	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	PLCB1_uc010zrb.1_Missense_Mutation_p.E272K|PLCB1_uc002wna.3_Missense_Mutation_p.E373K|PLCB1_uc002wnc.1_Missense_Mutation_p.E272K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	373	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCAGAAGAGGAACCTGTCAT	0.498000														37			79		0	0	0.048971	0	0
DRD2	1813	broad.mit.edu	37	11	113295250	113295250	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:113295250T>G	uc001pnz.3	-	0	445	c.124A>C	c.(124-126)Acc>Ccc	p.T42P	DRD2_uc010rwv.2_Missense_Mutation_p.T42P|DRD2_uc001poa.4_Missense_Mutation_p.T42P|DRD2_uc001pob.4_Missense_Mutation_p.T42P|DRD2_uc009yyr.1_Missense_Mutation_p.T42P	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	42					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATGAGCAGGGTGAGCAGTGTG	0.587000														36			28		0	0	0.034045	0	0
CDH18	1016	broad.mit.edu	37	5	19520786	19520786	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:19520786C>T	uc003jgd.3	-	9	2026	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	CDH18_uc011cnm.2_Missense_Mutation_p.E498K|CDH18_uc003jgc.3_Missense_Mutation_p.E498K|CDH18_uc021xwu.1_Missense_Mutation_p.E498K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAGAATTTTCACATACAATA	0.373000														10			13		0	0	0.105934	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205045	71205045	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:71205045C>T	uc001xmm.3	-	7	1761	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	MAP3K9_uc010ttk.2_Silent_p.E324E|MAP3K9_uc001xmk.3_Silent_p.E329E|MAP3K9_uc001xml.3_Silent_p.E587E	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	587					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCCTCTTCTCCTCCTCCTCCC	0.572000														39			27		0	0	0.099896	0	0
ZNF101	94039	broad.mit.edu	37	19	19790500	19790500	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:19790500C>T	uc002nni.2	+	3	812	c.702C>T	c.(700-702)atC>atT	p.I234I	ZNF101_uc010ecg.2_Silent_p.I114I|ZNF101_uc002nnj.2_Silent_p.I114I	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAAAACCTATCGATTATCCCA	0.358000														11			11		0	0	0.069234	0	0
ZNF772	400720	broad.mit.edu	37	19	57984993	57984993	+	Silent	SNP	A	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:57984993A>T	uc002qot.3	-	4	1380	c.1119T>A	c.(1117-1119)acT>acA	p.T373T	ZNF772_uc010ygy.2_Silent_p.T332T|ZNF772_uc010ygz.2_Silent_p.T261T|ZNF772_uc010yha.2_Silent_p.T319T|ZNF772_uc002qou.3_Silent_p.T261T	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	Homo sapiens zinc finger protein 772 (ZNF772), transcript variant 1, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H372N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GCCTTTCTCCAGTATGGATAC	0.423000														47			28		0	0	0.045705	0	0
MUC5B	727897	broad.mit.edu	37	11	1261137	1261137	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:1261137G>A	uc001lta.3	+	27	3751	c.3692G>A	c.(3691-3693)gGt>gAt	p.G1231D		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1231	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TATGACGTCGGTGCAAGGGTC	0.652000														22			10		0	0	0.080935	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018496	41018496	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:41018496C>T	uc003jmj.4	-	26	3200	c.2710G>A	c.(2710-2712)Gaa>Aaa	p.E904K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E459K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	904							binding			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						CTTTCTCTTTCCCACTCTTTT	0.363000														7			7		0	0	0.058154	0	0
GRIA2	2891	broad.mit.edu	37	4	158254447	158254447	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:158254447G>A	uc003ipm.4	+	7	1556	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	GRIA2_uc011cit.2_Missense_Mutation_p.G319E|GRIA2_uc003ipl.4_Missense_Mutation_p.G366E|GRIA2_uc003ipk.4_Missense_Mutation_p.G319E|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	366					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GACCAGAATGGAAAAAGAATA	0.363000														3			6		0	0	0.029380	0	0
WNT8A	7478	broad.mit.edu	37	5	137424747	137424747	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:137424747G>A	uc011cyk.1	+	3	789	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	WNT8A_uc011cyj.1_Missense_Mutation_p.A185T|WNT8A_uc003lcd.1_Missense_Mutation_p.A167T			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	167					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAACAACAGGGCCGGCAGACT	0.488000														52			40		0	0	0.042209	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156723	20156723	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:20156723T>C	uc004czt.3	-	1	242	c.34A>G	c.(34-36)Aga>Gga	p.R12G	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	12						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CCCCTGCGTCTGTTTTTACCT	0.303000														2			24		0	0	0.099896	0	0
MYF5	4617	broad.mit.edu	37	12	81112667	81112667	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:81112667C>T	uc001szg.2	+	2	740	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	202					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AACTCCTTATCCAGCTTGGAT	0.438000														46			27		0	0	0.045705	0	0
PCNT	5116	broad.mit.edu	37	21	47835985	47835985	+	Silent	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr21:47835985T>C	uc002zji.4	+	29	6260	c.6153T>C	c.(6151-6153)ggT>ggC	p.G2051G	PCNT_uc002zjj.3_Silent_p.G1933G	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2051					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCTGCAGGGTAAAGAAAAAG	0.493000														18			8		0	0	0.047766	0	0
LILRA4	23547	broad.mit.edu	37	19	54848889	54848889	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:54848889C>T	uc002qfj.3	-	4	791	c.734G>A	c.(733-735)gGc>gAc	p.G245D	LILRA4_uc002qfi.3_Missense_Mutation_p.G179D	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	245	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GACATCAGAGCCACACTGGAG	0.662000														13			12		0	0	0.020292	0	0
ASH1L	55870	broad.mit.edu	37	1	155448752	155448752	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:155448752G>A	uc009wqq.3	-	2	4389	c.3909C>T	c.(3907-3909)atC>atT	p.I1303I	ASH1L_uc001fkt.3_Silent_p.I1303I|ASH1L_uc009wqr.1_Silent_p.I1303I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1303					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.R1302W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGATGAGTGATCCGAATTT	0.403000														26			17		0	0	0.033300	0	0
GAS7	8522	broad.mit.edu	37	17	9820593	9820593	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:9820593G>A	uc002gmg.1	-	13	1544	c.1383C>T	c.(1381-1383)gtC>gtT	p.V461V	GAS7_uc010vvc.1_Silent_p.V275V|GAS7_uc002gmh.1_Silent_p.V321V|GAS7_uc010vvd.1_Silent_p.V413V|GAS7_uc002gmi.2_Silent_p.V397V|GAS7_uc002gmj.1_Silent_p.V401V|GAS7_uc010coh.1_Silent_p.V401V	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	461					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGCTCTCTGACCCACAGCT	0.607000			T	MLL	AML*									23			23		0	0	0.030593	0	0
GHR	2690	broad.mit.edu	37	5	42711312	42711312	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:42711312G>A	uc021xxv.1	+	6	780	c.643G>A	c.(643-645)Gac>Aac	p.D215N	GHR_uc003jmt.3_Missense_Mutation_p.D208N|GHR_uc003jmu.3_Missense_Mutation_p.D208N|GHR_uc003jmv.2_Missense_Mutation_p.D208N|GHR_uc021xxw.1_Missense_Mutation_p.D208N|GHR_uc021xxx.1_Missense_Mutation_p.D208N|GHR_uc021xxy.1_Missense_Mutation_p.D208N|GHR_uc021xxz.1_Missense_Mutation_p.D208N|GHR_uc021xya.1_Missense_Mutation_p.D208N|GHR_uc021xyb.1_Missense_Mutation_p.D208N|GHR_uc021xyc.1_Missense_Mutation_p.D208N|GHR_uc011cpq.2_Missense_Mutation_p.D21N|GHR_uc021xyd.1_Missense_Mutation_p.D186N	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	208	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGAAAGATGGACCCTATATT	0.368000														17			15		0	0	0.033300	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76481969	76481969	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:76481969C>T	uc002fex.1	+	3	747	c.608C>T	c.(607-609)tCc>tTc	p.S203F	CNTNAP4_uc002feu.1_Missense_Mutation_p.S199F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S112F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S175F|CNTNAP4_uc002few.2_Missense_Mutation_p.S175F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	200					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATCAAAAATCCCTGAGCCCA	0.378000														26			17		0	0	0.033300	0	0
C19orf75	284369	broad.mit.edu	37	19	51771841	51771841	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:51771841G>T	uc002pwb.1	+	5	965	c.584G>T	c.(583-585)cGa>cTa	p.R195L	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Missense_Mutation_p.R101L	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	195						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						CAAGATAAACGAGCCAGCTAA	0.418000														21			25		4.87955e-14	4.98799e-14	0.108266	1	0
ITGA4	3676	broad.mit.edu	37	2	182322966	182322966	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:182322966T>G	uc002unu.3	+	1	1004	c.241T>G	c.(241-243)Tca>Gca	p.S81A	ITGA4_uc010zfl.1_Missense_Mutation_p.S81A	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	81					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CGCCAACGCTTCAGTGATCAA	0.607000														10			5		0	0	0.014758	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882253	6882253	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr18:6882253C>T	uc002knc.3	+	10	4463	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	ARHGAP28_uc002kne.3_Missense_Mutation_p.L311F|ARHGAP28_uc010wzi.2_Missense_Mutation_p.L293F|ARHGAP28_uc002knf.3_Missense_Mutation_p.L302F	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	293					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACCCACCTCTCTCTTCCCTGT	0.383000														15			15		0	0	0.033300	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747088	26747088	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:26747088G>A	uc003acb.3	+	11	2674	c.2478G>A	c.(2476-2478)gtG>gtA	p.V826V	SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Silent_p.V826V|SEZ6L_uc003ace.3_Silent_p.V826V|SEZ6L_uc011akc.2_Silent_p.V826V|SEZ6L_uc003acc.3_Silent_p.V826V|SEZ6L_uc003acf.1_Silent_p.V599V|SEZ6L_uc010gvc.1_Silent_p.V599V|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	826	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.V826V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTGCTGGTGGGGACCACCA	0.552000														32			27		0	0	0.030593	0	0
MYO18A	399687	broad.mit.edu	37	17	27493346	27493346	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:27493346G>A	uc002hdt.1	-	1	771	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	MYO18A_uc010csa.1_Silent_p.L205L|MYO18A_uc002hdu.1_Silent_p.L205L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	205					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCAGGCGCAGGTCGACTGGG	0.667000														64			34		0	0	0.042209	0	0
FOSB	2354	broad.mit.edu	37	19	45973918	45973918	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:45973918C>T	uc002pbx.4	+	1	750	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.S53F|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.S53F|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.S53F|FOSB_uc010eke.3_Intron|FOSB_uc002pby.4_Missense_Mutation_p.S53F|FOSB_uc010ekf.3_Intron|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_Missense_Mutation_p.S4F	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	53					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		ATGCCCGGTTCCTTCGTGCCC	0.607000														93			60		0	0	0.048971	0	0
SEZ6	124925	broad.mit.edu	37	17	27286792	27286792	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:27286792C>T	uc002hdp.2	-	7	1889	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.L565L|SEZ6_uc002hdq.1_Silent_p.L440L	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	565	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGCCCTGCTCCAGGGTGTAGC	0.587000														23			12		0	0	0.105934	0	0
SLC7A8	23428	broad.mit.edu	37	14	23634537	23634537	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:23634537G>A	uc001wiz.3	-	2	1191	c.465C>T	c.(463-465)ttC>ttT	p.F155F	SLC7A8_uc010akj.3_Silent_p.F155F	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	155					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	ACTCTGGGGGGAAGCAGGTGG	0.532000														15			13		0	0	0.020292	0	0
MUC16	94025	broad.mit.edu	37	19	9070154	9070154	+	Silent	SNP	A	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:9070154A>C	uc002mkp.3	-	2	17496	c.17292T>G	c.(17290-17292)acT>acG	p.T5764T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5766	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						AGAAGGCAGGAGTTGATGTAG	0.458000														44			25		0	0	0.099896	0	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:120983847G>A	uc010rzo.2	+	3	553	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(4)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			23		0	0	0.076483	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686389	108686389	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:108686389G>A	uc009zuw.3	-	2	542	c.351C>T	c.(349-351)ttC>ttT	p.F117F	CMKLR1_uc001tmw.3_Silent_p.F117F|CMKLR1_uc001tmv.3_Silent_p.F115F|CMKLR1_uc009zuv.3_Silent_p.F117F|CMKLR1_uc021rdj.1_Silent_p.F115F	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	117					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.L117L(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGATGAGAAGGAAGTTGCTGA	0.532000														26			13		0	0	0.020292	0	0
SYT1	6857	broad.mit.edu	37	12	79689957	79689957	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:79689957G>C	uc001sys.3	+	7	1254	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	SYT1_uc001syt.3_Missense_Mutation_p.E195Q|SYT1_uc001syu.3_Missense_Mutation_p.E192Q|SYT1_uc001syv.3_Missense_Mutation_p.E195Q	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	195	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAGAAATTTGAGACAAAAGT	0.403000														24			18		0	0	0.043863	0	0
SF3B2	10992	broad.mit.edu	37	11	65824824	65824824	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:65824824C>T	uc001ogy.1	+	6	795	c.755C>T	c.(754-756)cCc>cTc	p.P252L		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	252	Poly-Pro.				interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding	p.P251P(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCCCACCGCCCCCTGGAGAT	0.542000														49			51		0	0	0.048971	0	0
DSCAM	1826	broad.mit.edu	37	21	42080414	42080414	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr21:42080414C>T	uc002yyq.1	-	1	779	c.327G>A	c.(325-327)ggG>ggA	p.G109G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	109	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCTAATTTTCCCTGAAGGAT	0.443000														29			13		0	0	0.024245	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795138	9795138	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:9795138C>T	uc001aqh.3	-	13	2737	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	CLSTN1_uc001aqi.3_Missense_Mutation_p.V650I|CLSTN1_uc010oag.2_Missense_Mutation_p.V641I|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	660					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AAATGGTGGACGCCACTCAGG	0.542000														79			46		0	0	0.048971	0	0
TRIM51	84767	broad.mit.edu	37	11	55658834	55658834	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:55658834G>A	uc010rip.2	+	6	1177	c.1085G>A	c.(1084-1086)tGg>tAg	p.W362*	TRIM51_uc010riq.2_Nonsense_Mutation_p.W219*	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	362	B30.2/SPRY.					intracellular	zinc ion binding										AACAATTATTGGAAAGAGAAG	0.453000														29			11		0	0	0.033300	0	0
OR14J1	442191	broad.mit.edu	37	6	29274589	29274589	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:29274589C>T	uc011dln.2	+	0	123	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CAGGCAACCTCCTCATTATCA	0.458000														84			21		0	0	0.055883	0	0
DROSHA	29102	broad.mit.edu	37	5	31466354	31466354	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:31466354G>A	uc003jhg.2	-	17	2760	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	DROSHA_uc003jhh.2_Missense_Mutation_p.R764C|DROSHA_uc003jhi.2_Missense_Mutation_p.R764C	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	801	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGAGGTGGCGAAGTTTCACA	0.428000														20			16		0	0	0.033300	0	0
LRRC14B	389257	broad.mit.edu	37	5	195239	195239	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:195239A>C	uc003jal.1	+	1	1344	c.1316A>C	c.(1315-1317)gAc>gCc	p.D439A		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	439										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TACCCACAGGACGAGCTGGCC	0.642000														76			49		0	0	0.048971	0	0
TEX29	121793	broad.mit.edu	37	13	111992268	111992268	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:111992268C>T	uc001vsa.3	+	3	357	c.228C>T	c.(226-228)acC>acT	p.T76T		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.	76						integral to membrane											TCGTCATCACCATCATCTACA	0.537000														66			35		0	0	0.098360	0	0
USP9Y	8287	broad.mit.edu	37	Y	14968653	14968653	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrY:14968653T>G	uc004fst.1	+	43	8262	c.7317T>G	c.(7315-7317)agT>agG	p.S2439R	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	2439					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTCAGTATAGTTACAACAATT	0.398000														0			20		0	0	0.043863	0	0
NLRP13	126204	broad.mit.edu	37	19	56443522	56443522	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:56443522G>A	uc010ygg.2	-	0	181	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	52	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGATACGCGGGAAGTGCCCCT	0.547000														37			22		0	0	0.076483	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722063	50722063	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:50722063G>A	uc003bkv.4	-	14	2631	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	846	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGCTGAAAGGAGCAGTTCC	0.657000														10			7		0	0	0.038147	0	0
RPSA	3921	broad.mit.edu	37	19	24010532	24010532	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:24010532C>T	uc002nrn.3	+	3	992	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	190					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GGCACCATTTCCCGTGAACAC	0.532000														10			3		0	0	0.038147	0	0
PGR	5241	broad.mit.edu	37	11	100922294	100922294	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:100922294G>A	uc001pgh.2	-	4	2961	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	PGR_uc001pgg.2_Nonsense_Mutation_p.R121*|PGR_uc001pgi.2_Nonsense_Mutation_p.R638*|PGR_uc009yww.1_Non-coding_Transcript|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.	740	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	p.R740Q(1)		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)	TGTAAGTTTCGAAAACCTACA	0.323000														22			13		0	0	0.020292	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765058	27765058	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:27765058A>G	uc011mjy.2	+	0	133	c.46A>G	c.(46-48)Act>Gct	p.T16A		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.									p.G15R(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGACTTAGGGACTGAAAGCCT	0.552000														0			3		0	0	0.004672	0	0
INSL4	3641	broad.mit.edu	37	9	5233832	5233832	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:5233832T>G	uc003ziy.3	+	1	480	c.375T>G	c.(373-375)tgT>tgG	p.C125W		NM_002195	NP_002186	Q14641	INSL4_HUMAN	Homo sapiens insulin-like 4 (placenta) (INSL4), mRNA.	125					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CATTCTGTTGTGAAGTAATTT	0.378000														9			16		0	0	0.028581	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554243	140554243	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:140554243C>T	uc003lit.3	+	0	2001	c.1827C>T	c.(1825-1827)gcC>gcT	p.A609A		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	609	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCAAGGCCACGGAGCCCG	0.711000														102			38		0	0	0.048971	0	0
MAN2B2	23324	broad.mit.edu	37	4	6611572	6611572	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:6611572C>T	uc003gjf.1	+	12	2090	c.2054C>T	c.(2053-2055)aCc>aTc	p.T685I	MAN2B2_uc003gje.1_Missense_Mutation_p.T685I|MAN2B2_uc011bwf.1_Missense_Mutation_p.T634I	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	685					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCCCGGCTCACCCATGTGCCG	0.592000														27			19		0	0	0.049695	0	0
MYH7	4625	broad.mit.edu	37	14	23900689	23900689	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:23900689C>T	uc001wjx.3	-	9	839	c.733_splice	c.e9-1	p.G245_splice		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	245	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AATGAATTTCCCCTGGAGAGA	0.512000														47			38		0	0	0.074837	0	0
GP9	2815	broad.mit.edu	37	3	128780670	128780670	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:128780670G>A	uc003elm.2	+	2	275	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	GP9_uc021xdn.1_Missense_Mutation_p.E30K	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	30	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CCGCGCCCTGGAAACCATGGG	0.701000														3			8		0	0	0.047766	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766392	19766392	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:19766392G>A	uc002nnh.4	-	9	1369	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Silent_p.F329F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	447					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAAGAGGATGAAGATGAAGG	0.592000														19			13		0	0	0.105934	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164486	12164486	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:12164486G>A	uc001atq.3	+	3	541	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	TNFRSF8_uc010obc.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	107					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.C106C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGTCTGCGAATGTCGACC	0.582000														30			7		0	0	0.029380	0	0
FBXL7	23194	broad.mit.edu	37	5	15928559	15928559	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:15928559G>C	uc003jfn.1	+	2	1169	c.688G>C	c.(688-690)Gtc>Ctc	p.V230L		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	230					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAACGAGGCCGTCTTTGATGT	0.582000														44			19		0	0	0.083992	0	0
SPAG17	200162	broad.mit.edu	37	1	118526470	118526470	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:118526470C>T	uc001ehk.2	-	41	5904	c.5836G>A	c.(5836-5838)Gaa>Aaa	p.E1946K	SPAG17_uc021osr.1_Missense_Mutation_p.E456K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1946						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGCTGTTTCGTTTGCATCT	0.313000														8			8		0	0	0.069234	0	0
LAD1	3898	broad.mit.edu	37	1	201351809	201351809	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:201351809G>A	uc001gwm.3	-	7	1680	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	482						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGATTCCTGGGTCCTGCTGAT	0.547000														3			4		0	0	0.009096	0	0
DNAH5	1767	broad.mit.edu	37	5	13735985	13735985	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:13735985C>T	uc003jfd.2	-	66	11554	c.11512G>A	c.(11512-11514)Gag>Aag	p.E3838K	DNAH5_uc003jfc.2_Missense_Mutation_p.E6K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3838					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)					TGATACATCTCATTAACCAAG	0.488000									Kartagener syndrome					41			29		0	0	0.050027	0	0
PAX7	5081	broad.mit.edu	37	1	19062256	19062256	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:19062256C>T	uc001bay.3	+	7	1884	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	PAX7_uc001baz.3_Missense_Mutation_p.S427F|PAX7_uc010oct.2_Missense_Mutation_p.S429F	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	429					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGGGCCGACTCCATCAAGCCA	0.682000			T	FOXO1A	alveolar rhabdomyosarcoma									51			34		0	0	0.080422	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954752	10954752	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:10954752G>A	uc001qyv.3	-	0	475	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	140					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AACACAGAGAGAACCACGCAC	0.423000														15			15		0	0	0.020292	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														92			4		0	0	0.009096	0	0
SERPINB12	89777	broad.mit.edu	37	18	61226939	61226939	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr18:61226939C>T	uc010xeo.2	+	2	432	c.432C>T	c.(430-432)ttC>ttT	p.F144F	SERPINB12_uc010xen.2_Silent_p.F124F	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	124					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGCAGGAATTCCCAATCTGTC	0.448000														26			15		0	0	0.028581	0	0
P4HA1	5033	broad.mit.edu	37	10	74769646	74769646	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:74769646A>G	uc021ptk.1	-	12	1485	c.1453T>C	c.(1453-1455)Tgg>Cgg	p.W485R	P4HA1_uc010qka.2_Missense_Mutation_p.W485R|P4HA1_uc001jth.3_Missense_Mutation_p.W485R|P4HA1_uc001jtg.3_Missense_Mutation_p.W485R|P4HA1_uc010qkb.2_Missense_Mutation_p.W467R|P4HA1_uc021ptj.1_Missense_Mutation_p.W485R	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	485	Fe2OG dioxygenase.					endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGATTATACCAGAAAACAGCA	0.373000														2			30		0	0	0.045705	0	0
ELFN2	114794	broad.mit.edu	37	22	37769278	37769278	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:37769278G>A	uc003asq.4	-	2	3083	c.2297C>T	c.(2296-2298)aCg>aTg	p.T766M	ELFN2_uc021wph.1_Missense_Mutation_p.T766M	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	766						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GATCTTGTGCGTGCTCTCGGA	0.637000														32			18		0	0	0.038395	0	0
UBE2O	63893	broad.mit.edu	37	17	74388154	74388154	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:74388154G>A	uc002jrm.4	-	15	3052	c.2987C>T	c.(2986-2988)cCc>cTc	p.P996L	UBE2O_uc002jrl.4_Missense_Mutation_p.P600L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	996							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATCCTCGTAGGGGGTTCGAGT	0.617000														13			10		0	0	0.105934	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319578	21319578	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:21319578G>A	uc021tss.1	+	2	1294	c.924G>A	c.(922-924)atG>atA	p.M308I	KCNJ18_uc002gyv.1_Missense_Mutation_p.M308I|KCNJ18_uc021tst.1_Missense_Mutation_p.M308I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	308						integral to membrane	inward rectifier potassium channel activity										CCACAGCCATGACCACCCAGG	0.607000														99			22		0	0	0.091800	0	0
ARL3	403	broad.mit.edu	37	10	104459233	104459233	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:104459233T>C	uc001kwa.3	-	2	319	c.161A>G	c.(160-162)aAa>aGa	p.K54R		NM_004311	NP_004302	P36405	ARL3_HUMAN	Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA.	54					cell cycle|cytokinesis|small GTPase mediated signal transduction	Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		TTGTACACTTTTGATGTTGAA	0.308000														4			13		0	0	0.024245	0	0
PTPN11	5781	broad.mit.edu	37	12	112940052	112940052	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:112940052C>T	uc001ttx.3	+	13	2084	c.1704C>T	c.(1702-1704)ccC>ccT	p.P568P		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	572					T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAACGCCACCCTGTGCAGAGT	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					52			27		0	0	0.034045	0	0
CD163L1	283316	broad.mit.edu	37	12	7531623	7531623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:7531623C>T	uc010sge.2	-	8	2378	c.2352G>A	c.(2350-2352)tgG>tgA	p.W784*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.W774*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	774	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGTCTGTTTCCACTCCCATC	0.388000														54			23		0	0	0.076483	0	0
C1orf65	164127	broad.mit.edu	37	1	223567524	223567524	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:223567524G>A	uc001hoa.2	+	0	810	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	236										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAAGAGATGCGGAGCCCGCAC	0.622000														32			3		0	0	0.004672	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092797	30092797	+	RNA	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr18:30092797C>T	uc010dmc.3	+	0		c.1172C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CACGATGCTTCGTATGGCAGG	0.433000														27			12		0	0	0.093190	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499311	150499311	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:150499311G>A	uc003whx.1	+	2	261	c.183G>A	c.(181-183)caG>caA	p.Q61Q	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	61						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGATGCAGATCGTGCTGG	0.557000														11			84		0	0	0.048971	0	0
NUP37	79023	broad.mit.edu	37	12	102512251	102512251	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:102512251C>G	uc001tjc.3	-	0	111	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	NUP37_uc009zub.1_Missense_Mutation_p.E16Q|PARPBP_uc001tjd.3_5'Flank|PARPBP_uc001tje.3_5'Flank|PARPBP_uc001tjf.3_5'Flank|PARPBP_uc010swa.2_5'Flank|PARPBP_uc001tjg.3_5'Flank|PARPBP_uc001tjh.3_5'Flank|PARPBP_uc010swb.2_5'Flank|PARPBP_uc001tji.3_5'Flank	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	16					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						ACATAATCTTCACAATCCACA	0.388000														38			30		0	0	0.045705	0	0
BCAS1	8537	broad.mit.edu	37	20	52570090	52570090	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:52570090C>T	uc002xws.2	-	10	1899	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	BCAS1_uc010zza.1_Missense_Mutation_p.E187K|BCAS1_uc010zzb.1_Missense_Mutation_p.E447K|BCAS1_uc010gim.2_Missense_Mutation_p.E377K|BCAS1_uc002xwt.2_Missense_Mutation_p.E507K|BCAS1_uc010gil.1_Missense_Mutation_p.E443K	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	521						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGGCTGGTTCTTTGGCTTCC	0.557000														43			78		0	0	0.048971	0	0
MYLK3	91807	broad.mit.edu	37	16	46763045	46763045	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:46763045C>T	uc002eei.4	-	7	1779	c.1663_splice	c.e7-1	p.E555_splice	MYLK3_uc010vge.2_Splice_Site_p.E214_splice|MYLK3_uc002eej.1_Splice_Site_p.E214_splice	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	555	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTCACGTCCTCCTTGGGGGAA	0.522000														39			32		0	0	0.041601	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166799	180166799	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:180166799C>T	uc003mmf.1	-	0	260	c.260G>A	c.(259-261)gGg>gAg	p.G87E		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGTCCACCCCGCAAAGGTT	0.592000														30			9		0	0	0.058154	0	0
C15orf2	23742	broad.mit.edu	37	15	24921209	24921209	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:24921209C>T	uc001ywo.3	+	0	669	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	65					cell differentiation|multicellular organismal development|spermatogenesis			p.F65F(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCAGCATCTTCGTCGCCCCTA	0.721000														23			24		0	0	0.099896	0	0
SORL1	6653	broad.mit.edu	37	11	121495832	121495832	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:121495832C>T	uc001pxx.3	+	45	6339	c.6210C>T	c.(6208-6210)atC>atT	p.I2070I	SORL1_uc010rzp.1_Silent_p.I916I|SORL1_uc010rzq.1_Silent_p.I685I	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2070	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCATGAATATCACAGCTTACC	0.393000														61			30		0	0	0.037714	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466690	50466690	+	Missense_Mutation	SNP	A	C	C	rs61747164		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr13:50466690A>C	uc001vdk.2	+	0	2146	c.1964A>C	c.(1963-1965)cAt>cCt	p.H655P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GGGTCAGTGCATTCAGAAATG	0.403000														40			4		0	0	0.029380	0	0
CSRNP3	80034	broad.mit.edu	37	2	166451582	166451582	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:166451582G>A	uc002udf.3	+	3	383	c.7G>A	c.(7-9)Gga>Aga	p.G3R	CSRNP3_uc002udg.3_Missense_Mutation_p.G3R	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	3					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCGATGAGTGGAATTTTAAA	0.478000														24			12		0	0	0.020292	0	0
DEFB115	245929	broad.mit.edu	37	20	29847381	29847381	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr20:29847381G>A	uc002wvp.1	+	1	213	c.213G>A	c.(211-213)aaG>aaA	p.K71K		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	71					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			CTAAAGAAAAGGATAAACTAT	0.353000														30			11		0	0	0.080935	0	0
FAM135B	51059	broad.mit.edu	37	8	139163500	139163500	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:139163500G>A	uc003yuy.3	-	12	3389	c.3218C>T	c.(3217-3219)tCc>tTc	p.S1073F	FAM135B_uc003yux.3_Missense_Mutation_p.S974F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S635F|FAM135B_uc003yvb.3_Missense_Mutation_p.S635F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1073								p.S1073S(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AACTCCAAAGGATCCCAAAGG	0.522000										HNSCC(54;0.14)				18			77		0	0	0.048971	0	0
GABRA6	2559	broad.mit.edu	37	5	161116047	161116047	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:161116047G>A	uc003lyu.2	+	3	656	c.318G>A	c.(316-318)ttG>ttA	p.L106L	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	106					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAATAATTTGATGGTCAGTA	0.413000										TCGA Ovarian(5;0.080)				21			20		0	0	0.076483	0	0
BRDT	676	broad.mit.edu	37	1	92428328	92428328	+	Missense_Mutation	SNP	G	A	A	rs56273490		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:92428328G>A	uc001dol.4	+	2	435	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	BRDT_uc010osz.2_Missense_Mutation_p.R6Q|BRDT_uc001dok.4_Missense_Mutation_p.R6Q|BRDT_uc009wdf.3_Intron|BRDT_uc010otb.2_Missense_Mutation_p.R6Q|BRDT_uc010ota.2_Missense_Mutation_p.R6Q|BRDT_uc001dom.4_Missense_Mutation_p.R6Q	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	6			R -> Q (in dbSNP:rs56273490).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTGCCAAGTCGACAAACAGCT	0.358000														17			12		0	0	0.093190	0	0
GHR	2690	broad.mit.edu	37	5	42719062	42719062	+	Missense_Mutation	SNP	G	A	A	rs6176	byFrequency	TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:42719062G>A	uc021xxv.1	+	9	1611	c.1474G>A	c.(1474-1476)Gac>Aac	p.D492N	GHR_uc003jmt.3_Missense_Mutation_p.D485N|GHR_uc003jmu.3_Missense_Mutation_p.D485N|GHR_uc003jmv.2_Missense_Mutation_p.D485N|GHR_uc021xxw.1_Missense_Mutation_p.D485N|GHR_uc021xxx.1_Missense_Mutation_p.D485N|GHR_uc021xxy.1_Missense_Mutation_p.D485N|GHR_uc021xxz.1_Missense_Mutation_p.D485N|GHR_uc021xya.1_Missense_Mutation_p.D485N|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.D298N|GHR_uc021xyd.1_Missense_Mutation_p.D463N	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	485					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTCAAACATCGACTTTTATGC	0.488000														24			13		0	0	0.105934	0	0
KRT34	3885	broad.mit.edu	37	17	39537367	39537367	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:39537367C>T	uc002hwm.3	-	2	667	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	219	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACCTGGGACTCCAGGTCAGAC	0.537000														37			29		0	0	0.045705	0	0
FABP9	646480	broad.mit.edu	37	8	82370842	82370842	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:82370842C>T	uc011lfo.2	-	2	343	c.343G>A	c.(343-345)Gta>Ata	p.V115I		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Homo sapiens fatty acid binding protein 9, testis (FABP9), mRNA.	115							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CTTACCACTACCATTTTTTCA	0.323000														17			77		0	0	0.048971	0	0
GRID2	2895	broad.mit.edu	37	4	94436461	94436461	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:94436461C>T	uc011cdt.2	+	12	2350	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	GRID2_uc011cdu.2_Missense_Mutation_p.P603S	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	698					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGACTGAATCCTTTTGAGAG	0.478000														24			16		0	0	0.024245	0	0
RNF112	7732	broad.mit.edu	37	17	19316290	19316290	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:19316290C>T	uc010vyw.2	+	3	652	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	RNF112_uc010vyu.2_Missense_Mutation_p.R141C|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Intron	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	141							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCTGCTGGTTCGCATCAATGC	0.647000														7			7		0	0	0.029380	0	0
OR2T10	127069	broad.mit.edu	37	1	248756584	248756584	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:248756584G>A	uc010pzn.2	-	0	486	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P161T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTCATGGCGATGGGAGTGA	0.527000														47			21		0	0	0.076483	0	0
BAG6	7917	broad.mit.edu	37	6	31610669	31610669	+	Silent	SNP	G	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:31610669G>C	uc003nvg.4	-	13	2204	c.1890C>G	c.(1888-1890)ccC>ccG	p.P630P	BAG6_uc003nvf.4_Silent_p.P624P|BAG6_uc003nvi.4_Silent_p.P624P|BAG6_uc003nvh.4_Silent_p.P624P|BAG6_uc011dnw.2_Silent_p.P624P|BAG6_uc011dnx.2_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	630	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.A629V(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CAGTGATGGTGGGAGAAGCCA	0.592000														332			111		0	0	0.048971	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366764	40366764	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:40366764G>A	uc002rrx.3	-	8	2346	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.F769F|SLC8A1_uc002rsb.2_Silent_p.F766F|SLC8A1_uc002rrz.3_Silent_p.F761F|SLC8A1_uc002rsa.3_Silent_p.F738F|SLC8A1_uc002rsd.4_Silent_p.F738F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	774					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACGTAATCGAAACAGGAGG	0.502000														47			23		0	0	0.099896	0	0
OR8D1	283159	broad.mit.edu	37	11	124180566	124180567	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:124180566_124180567CC>TT	uc010sag.2	-	0	96_97	c.96_97GG>AA	c.(94-99)ctggga>ctAAga	p.G33R		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACATAGATTCCCAGGAACAGGA	0.485000														43			24		0	0	0.004672	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455465	187455465	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:187455465G>A	uc003izd.1	-	1	449	c.431C>T	c.(430-432)tCc>tTc	p.S144F		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	144					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GTAGCAGAGGGAGTTCTTGCT	0.572000														28			16		0	0	0.028581	0	0
MUC16	94025	broad.mit.edu	37	19	9083554	9083554	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:9083554C>T	uc002mkp.3	-	0	8465	c.8261G>A	c.(8260-8262)gGa>gAa	p.G2754E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2754	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						ACCAGTAGTTCCCGCAGGCAA	0.493000														26			27		0	0	0.034045	0	0
TIE1	7075	broad.mit.edu	37	1	43783566	43783566	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:43783566C>T	uc001ciu.3	+	16	2922	c.2745C>T	c.(2743-2745)atC>atT	p.I915I	TIE1_uc010oke.2_Silent_p.I870I|TIE1_uc009vwq.3_Silent_p.I871I|TIE1_uc010okg.2_Silent_p.I560I	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	915	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTTGTATATCGCTATTGAAT	0.522000														187			155		0	0	0.048971	0	0
MPP7	143098	broad.mit.edu	37	10	28409223	28409223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:28409223G>A	uc001iua.1	-	11	1191	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Nonsense_Mutation_p.Q263*|MPP7_uc009xla.2_Nonsense_Mutation_p.Q263*|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	263	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCATAATCTGAAGAATATCT	0.448000														19			51		0	0	0.048971	0	0
NKD1	85407	broad.mit.edu	37	16	50583352	50583352	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:50583352C>T	uc002egg.2	+	2	302	c.78C>T	c.(76-78)agC>agT	p.S26S		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	26					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCGCCGTGAGCGCTGCCTGGG	0.682000														24			3		0	0	0.004672	0	0
DHRS2	10202	broad.mit.edu	37	14	24114377	24114377	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:24114377G>A	uc001wkt.4	+	8	1216	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	DHRS2_uc001wku.4_Missense_Mutation_p.G253E|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GACTGTGCAGGAATCGTGTCC	0.577000														52			47		0	0	0.048971	0	0
ME3	10873	broad.mit.edu	37	11	86161345	86161345	+	Missense_Mutation	SNP	C	T	T	rs144643070		TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:86161345C>T	uc001pbz.3	-	7	1269	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	ME3_uc001pca.3_Missense_Mutation_p.E339K|ME3_uc009yvk.3_Missense_Mutation_p.E339K|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	339					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCACATACCTCGCCTGCACCT	0.493000														15			9		0	0	0.047766	0	0
OR4F6	390648	broad.mit.edu	37	15	102346044	102346044	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:102346044G>A	uc010utr.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGCCTGATGGGAAATCTCCTC	0.483000														93			68		0	0	0.048971	0	0
GSTA1	2938	broad.mit.edu	37	6	52657664	52657664	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:52657664G>C	uc003paz.3	-	5	648	c.536C>G	c.(535-537)cCt>cGt	p.P179R	GSTA1_uc021zan.1_Missense_Mutation_p.P179R	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	179	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CTTCAGCAGAGGGAAGCTGGA	0.547000														10			30		0	0	0.064281	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526492	71526492	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:71526492C>T	uc009zrt.1	-	5	719	c.557G>A	c.(556-558)gGa>gAa	p.G186E	TSPAN8_uc001swk.1_Missense_Mutation_p.G186E|TSPAN8_uc001swj.1_Missense_Mutation_p.G186E	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	186					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AACTTGTTTTCCATTATAGCT	0.343000														159			88		0	0	0.048971	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232586	5232586	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:5232586G>A	uc003jdl.3	+	11	1945	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G603R|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	603	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G603R(3)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGGACCTGCGGAGGGGGAGT	0.567000														53			24		0	0	0.108266	0	0
PCLO	27445	broad.mit.edu	37	7	82584883	82584883	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr7:82584883C>T	uc003uhx.2	-	4	5675	c.5386G>A	c.(5386-5388)Gaa>Aaa	p.E1796K	PCLO_uc003uhv.2_Missense_Mutation_p.E1796K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1727					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGCTGTTCTATTTCCCTC	0.383000														8			62		0	0	0.048971	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428361	1428361	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:1428361G>A	uc010nct.2	+	13	1514	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CRLF2_uc022brt.1_Intron|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.E398K|CSF2RA_uc004cpo.2_Missense_Mutation_p.E398K|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.E265K|CSF2RA_uc004cpp.2_Missense_Mutation_p.G338E|CSF2RA_uc010ncv.2_Missense_Mutation_p.E432K|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	398						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACCGTGAAGGAAATTACCTG	0.512000														75			99		0	0	0.048971	0	0
C10orf54	64115	broad.mit.edu	37	10	73512752	73512752	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:73512752C>T	uc001jsd.3	-	4	825	c.684G>A	c.(682-684)caG>caA	p.Q228Q	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Silent_p.Q96Q	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	228						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCACCAGCTCCTGGGCACCTA	0.582000														5			6		0	0	0.021553	0	0
NLRP3	114548	broad.mit.edu	37	1	247587626	247587626	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:247587626C>T	uc001icr.3	+	4	1019	c.881C>T	c.(880-882)cCc>cTc	p.P294L	NLRP3_uc001ics.3_Missense_Mutation_p.P294L|NLRP3_uc001icu.3_Missense_Mutation_p.P294L|NLRP3_uc001icw.3_Missense_Mutation_p.P294L|NLRP3_uc001icv.3_Missense_Mutation_p.P294L|NLRP3_uc010pyw.2_Missense_Mutation_p.P292L|NLRP3_uc001ict.1_Missense_Mutation_p.P292L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	294	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAAAACCCTCCAGAATC	0.587000														41			27		0	0	0.108266	0	0
FAT1	2195	broad.mit.edu	37	4	187535364	187535364	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:187535364G>A	uc003izf.3	-	11	9398	c.9210C>T	c.(9208-9210)ttC>ttT	p.F3070F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3070	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATTTAGTTTGAATTTTTCTG	0.373000										HNSCC(5;0.00058)				56			46		0	0	0.048971	0	0
ACSS3	79611	broad.mit.edu	37	12	81627142	81627142	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:81627142C>T	uc001szl.1	+	12	1702	c.1611C>T	c.(1609-1611)acC>acT	p.T537T	ACSS3_uc001szm.1_Silent_p.T536T|ACSS3_uc001szn.1_Silent_p.T219T	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	537						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTATGATACCATGGATGCTG	0.338000														39			19		0	0	0.055883	0	0
ROBO4	54538	broad.mit.edu	37	11	124761259	124761259	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:124761259C>T	uc001qbg.3	-	11	2024	c.1884G>A	c.(1882-1884)agG>agA	p.R628R	ROBO4_uc010sas.2_Silent_p.R483R|ROBO4_uc001qbh.2_Silent_p.R518R|ROBO4_uc001qbi.3_Silent_p.R186R|ROBO4_uc010sat.1_Silent_p.R186R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	628					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R627H(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AAGAGAGTCCCCTGCGGCTGC	0.632000														31			14		0	0	0.028581	0	0
COLEC10	10584	broad.mit.edu	37	8	120118181	120118181	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:120118181C>T	uc003yoo.3	+	5	682	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	195	C-type lectin.					collagen|cytoplasm	mannose binding	p.I195M(2)		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)			ACACACTCATCGCTGACTATG	0.517000														22			97		0	0	0.048971	0	0
SALL1	6299	broad.mit.edu	37	16	51175273	51175273	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr16:51175273G>A	uc021tif.1	-	1	891	c.569C>T	c.(568-570)tCc>tTc	p.S190F	SALL1_uc021tid.1_Missense_Mutation_p.S190F|SALL1_uc021tie.1_Missense_Mutation_p.S287F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	287					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGATAAATGGGAACTTAGCGT	0.507000														61			34		0	0	0.054565	0	0
NF2	4771	broad.mit.edu	37	22	30035121	30035121	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:30035121C>T	uc003age.4	+	2	726	c.283C>T	c.(283-285)Cac>Tac	p.H95Y	NF2_uc003afy.4_Missense_Mutation_p.H95Y|NF2_uc003afz.4_Intron|NF2_uc003agf.4_Missense_Mutation_p.H95Y|NF2_uc003agb.4_Missense_Mutation_p.H18Y|NF2_uc003agc.4_Missense_Mutation_p.H57Y|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Missense_Mutation_p.H95Y|NF2_uc003aga.4_Missense_Mutation_p.H53Y|NF2_uc003agh.4_Intron|NF2_uc003agi.4_Intron|NF2_uc003agj.4_Missense_Mutation_p.H95Y	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	95	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.F94fs*9(2)|p.V86_Q111>E(2)|p.H84_F100del(2)|p.H95fs*3(2)|p.H95fs*28(1)|p.F94fs*27(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGTCACCTTTCACTTCTTGGC	0.428000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2					25			10		0	0	0.069234	0	0
PREX2	80243	broad.mit.edu	37	8	68992692	68992692	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:68992692G>A	uc003xxv.1	+	15	1684	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	PREX2_uc003xxu.1_Missense_Mutation_p.E553K|PREX2_uc011lez.1_Missense_Mutation_p.E488K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	553	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.S552fs*6(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAAAAAAGCGAATTCAAAGA	0.323000														73			7		0	0	0.038147	0	0
ZWILCH	55055	broad.mit.edu	37	15	66829534	66829534	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:66829534C>T	uc002aqb.3	+	15	1753	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	ZWILCH_uc010bhu.1_Missense_Mutation_p.P389S|ZWILCH_uc002aqa.3_Missense_Mutation_p.P389S|ZWILCH_uc010bhv.3_Missense_Mutation_p.P389S	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	503					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CAAACAAAATCCTCTTGATGA	0.368000														18			6		0	0	0.021553	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658745	167658745	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr4:167658745G>A	uc011cjq.1	-	8	1098	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	SPOCK3_uc021xuf.1_Silent_p.I338I|SPOCK3_uc011cjr.1_Silent_p.I218I|SPOCK3_uc003iri.1_Silent_p.I338I|SPOCK3_uc011cjs.1_Silent_p.I287I|SPOCK3_uc003irj.1_Silent_p.I335I|SPOCK3_uc011cjt.1_Silent_p.I246I|SPOCK3_uc011cjp.2_Silent_p.I295I|SPOCK3_uc011cju.1_Silent_p.I242I|SPOCK3_uc011cjv.1_Silent_p.I240I	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	338	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACACAGGGGGATATACTGTC	0.423000														23			16		0	0	0.033300	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897757	130897757	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:130897757G>A	uc010yzw.1	-	3	1921	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	CCDC74B_uc002tqm.1_Nonsense_Mutation_p.Q291*|CCDC74B_uc002tqn.1_Nonsense_Mutation_p.Q225*			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	291										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTCACCTCTTGGGTCTGCAGG	0.662000														26			23		0	0	0.037714	0	0
PKHD1	5314	broad.mit.edu	37	6	51918008	51918008	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr6:51918008C>T	uc003pah.1	-	20	2282	c.2006G>A	c.(2005-2007)cGt>cAt	p.R669H	PKHD1_uc003pai.3_Missense_Mutation_p.R669H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	669					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCGAAGCAACGCACACAAGT	0.582000														9			6		0	0	0.021553	0	0
TTF1	7270	broad.mit.edu	37	9	135277532	135277532	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:135277532G>A	uc004cbl.3	-	1	746	c.677C>T	c.(676-678)tCc>tTc	p.S226F	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	226					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCGGTTACTGGACTTTTTCTT	0.502000														18			15		0	0	0.020292	0	0
COL5A2	1290	broad.mit.edu	37	2	189963464	189963464	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:189963464G>A	uc002uqk.3	-	4	666	c.391C>T	c.(391-393)Cca>Tca	p.P131S		NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	131					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCGGTCCTGGACGACCACGT	0.338000														13			9		0	0	0.080935	0	0
CBLC	23624	broad.mit.edu	37	19	45285647	45285647	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:45285647G>A	uc002ozs.3	+	3	741	c.678G>A	c.(676-678)aaG>aaA	p.K226K	CBLC_uc010ejt.3_Silent_p.K226K	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	226	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.L225L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CACTCCTCAAGAACTGGCAGC	0.612000			M		AML									125			79		0	0	0.048971	0	0
VPS13B	157680	broad.mit.edu	37	8	100673581	100673581	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:100673581G>A	uc003yiv.3	+	35	6095	c.5984_splice	c.e35-1	p.D1995_splice	VPS13B_uc003yiw.3_Splice_Site_p.D1970_splice	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1995					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTCACTTTAGATCCTGGGAA	0.353000														20			77		0	0	0.048971	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884610	24884610	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:24884610T>A	uc001wpf.4	+	8	3973	c.3655T>A	c.(3655-3657)Ttt>Att	p.F1219I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1219					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTCAAGCATTTTTCCCGCTG	0.632000														41			29		0	0	0.108266	0	0
LAMB2	3913	broad.mit.edu	37	3	49162246	49162246	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:49162246G>A	uc003cwe.3	-	20	3296	c.2997C>T	c.(2995-2997)gcC>gcT	p.A999A	LAMB2_uc003cwf.1_Silent_p.A999A	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	999	Laminin EGF-like 10.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGGTCACAGGCATCAGGAT	0.617000														9			47		0	0	0.048971	0	0
SLC25A26	115286	broad.mit.edu	37	3	66413327	66413327	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr3:66413327A>C	uc011bfq.2	+	7	1270	c.542A>C	c.(541-543)cAg>cCg	p.Q181P	SLC25A26_uc011bfs.2_Missense_Mutation_p.Q93P|SLC25A26_uc011bft.2_Non-coding_Transcript	NM_173471	NP_001158268	Q70HW3	SAMC_HUMAN	Homo sapiens solute carrier family 25, member 26 (SLC25A26), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	181						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GATTCTTGGCAGTCAGCAGTC	0.393000														5			4		0	0	0.021553	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054663	106054663	+	Missense_Mutation	SNP	C	T	T	rs116634885	by1000genomes	TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:106054663C>T	uc001yrt.3	-	1	119	c.88G>A	c.(88-90)Gtc>Atc	p.V30I	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		AGGCATGCGACGACCACGTTC	0.632000														92			5		0	0	0.021553	0	0
SLC44A5	204962	broad.mit.edu	37	1	75704210	75704210	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:75704210C>T	uc010oqz.1	-	8	827	c.761G>A	c.(760-762)gGg>gAg	p.G254E	SLC44A5_uc001dgt.2_Missense_Mutation_p.G215E|SLC44A5_uc001dgs.2_Missense_Mutation_p.G173E|SLC44A5_uc001dgr.2_Missense_Mutation_p.G173E|SLC44A5_uc001dgu.3_Missense_Mutation_p.G215E|SLC44A5_uc010ora.2_Missense_Mutation_p.G209E|SLC44A5_uc010orb.2_Missense_Mutation_p.G85E	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	215						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.V254I(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCAGCAATCCCGAGTTCTAC	0.383000														19			15		0	0	0.020292	0	0
OR56A3	390083	broad.mit.edu	37	11	5968822	5968822	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:5968822C>T	uc010qzt.2	+	0	246	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACTGTCATCCCCAAGGTCC	0.562000														76			38		0	0	0.098360	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274137	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr11:45274136_45274137GG>AA	uc001myq.2	-	3	807_808	c.681_682CC>TT	c.(679-684)ctcccc>ctTTcc	p.P228S	SYT13_uc009yku.1_Missense_Mutation_p.P84S	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	228	C2 1.					transport vesicle		p.P228T(2)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGGC	0.678000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			23		0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	3265737	3265737	+	Silent	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:3265737G>A	uc022aqr.1	-	13	2145	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	586	CUB 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)		TAAAGTTGAAGAAACATGAAA	0.388000														1			7		0	0	0.029380	0	0
NLRP13	126204	broad.mit.edu	37	19	56424103	56424103	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr19:56424103C>T	uc010ygg.2	-	4	1105	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	360	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGATCGTGATCAGTAAGGTAG	0.473000														43			23		0	0	0.062417	0	0
OTX2	5015	broad.mit.edu	37	14	57268780	57268780	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:57268780C>T	uc001xcq.3	-	4	841	c.567G>A	c.(565-567)caG>caA	p.Q189Q	OTX2_uc001xcp.3_Silent_p.Q181Q|OTX2_uc021rtm.1_Silent_p.Q11Q|OTX2_uc010aou.3_Silent_p.Q181Q	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	181					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AACCTGAAGCCTGAGTATAGG	0.522000														45			20		0	0	0.062417	0	0
PXDNL	137902	broad.mit.edu	37	8	52321481	52321481	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr8:52321481C>T	uc003xqu.4	-	16	2804	c.2703G>A	c.(2701-2703)ggG>ggA	p.G901G	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	901					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)				GCTCCGAGCTCCCGTAAACGT	0.602000														17			115		0	0	0.048971	0	0
CTNND2	1501	broad.mit.edu	37	5	11082825	11082825	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr5:11082825C>T	uc003jfa.1	-	15	2916	c.2771G>A	c.(2770-2772)aGa>aAa	p.R924K	CTNND2_uc010itt.2_Missense_Mutation_p.R833K|CTNND2_uc011cmy.1_Missense_Mutation_p.R587K|CTNND2_uc011cmz.1_Missense_Mutation_p.R491K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.R516K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	924					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCTTATTTCTGACGTCCAA	0.522000														60			32		0	0	0.080422	0	0
TAOK1	57551	broad.mit.edu	37	17	27844580	27844580	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr17:27844580G>C	uc002hdz.2	+	15	2008	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	TAOK1_uc010wbe.2_Intron	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	605					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.R605*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AACCTTCTTCGACGTCAAAGA	0.443000														73			31		0	0	0.050027	0	0
COL3A1	1281	broad.mit.edu	37	2	189870969	189870969	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr2:189870969G>A	uc002uqj.1	+	41	3194	c.3077G>A	c.(3076-3078)gGa>gAa	p.G1026E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1026	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCGAGATGGATCTCCTGGT	0.353000														30			16		0	0	0.043863	0	0
KIAA1199	57214	broad.mit.edu	37	15	81214441	81214441	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:81214441G>A	uc002bfw.1	+	15	2425	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	KIAA1199_uc010unn.1_Missense_Mutation_p.G722E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	722										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTCCACTGGGAAAATTCTAT	0.532000														35			33		0	0	0.059317	0	0
CACNA1B	774	broad.mit.edu	37	9	140952579	140952579	+	Silent	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:140952579C>T	uc004cog.3	+	27	4330	c.4185C>T	c.(4183-4185)ttC>ttT	p.F1395F	CACNA1B_uc022bqn.1_Silent_p.F1395F|CACNA1B_uc011mfd.2_Silent_p.F996F|CACNA1B_uc004coi.3_Silent_p.F609F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1395					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTCCATCTTCTACGTGGTCT	0.532000														39			25		0	0	0.083992	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039776	2039776	+	Silent	SNP	A	G	G	rs13296987	byFrequency	TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr9:2039776A>G	uc003zhc.3	+	3	765	c.666A>G	c.(664-666)caA>caG	p.Q222Q	SMARCA2_uc003zhd.3_Silent_p.Q222Q|SMARCA2_uc010mha.3_Silent_p.Q213Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	222	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagcagc	0.637000														14			3		0	0	0.004672	0	0
DCAF8	50717	broad.mit.edu	37	1	160254895	160254895	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr1:160254895C>T	uc001fvs.2	-	0	47	c.20G>A	c.(19-21)gGc>gAc	p.G7D	DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Missense_Mutation_p.G7D|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GACACTACAGCCTTCCTCAGC	0.642000														38			29		0	0	0.064281	0	0
WNK1	65125	broad.mit.edu	37	12	978199	978199	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:978199C>T	uc021qss.1	+	8	3950	c.3307C>T	c.(3307-3309)Ccc>Tcc	p.P1103S	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Missense_Mutation_p.P1188S|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Missense_Mutation_p.P402S	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	849					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCTGTTTCCCCCAAGGAAC	0.458000														363			113		0	0	0.048971	0	0
PTEN	5728	broad.mit.edu	37	10	89693002	89693003	+	Frame_Shift_Ins	INS	-	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr10:89693002_89693003insA	uc001kfb.3	+	4	1518_1519	c.486_487insA	c.(484-489)gacaaafs	p.D162fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	162	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(4)|p.R161I(2)|p.Y27fs*1(2)|p.R161K(2)|p.Y27_N212>Y(2)|p.D162fs*8(2)|p.R161G(1)|p.K163_V166>NKGE(1)|p.D162H(1)|p.D162V(1)|p.F56fs*2(1)|p.D162G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCAGAGACAAAAAGGTAAG	0.351		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	11	---	---	26	---					
DUSP6	1848	broad.mit.edu	37	12	89744592	89744593	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr12:89744592_89744593insT	uc001tay.3	-	1	1090_1091	c.610_611insA	c.(610-612)cctfs	p.P204fs	DUSP6_uc001taz.3_Intron	NM_001946	NP_001937	Q16828	DUS6_HUMAN	Homo sapiens dual specificity phosphatase 6 (DUSP6), transcript variant 1, mRNA.	204					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGGAAGGAAGGCTGGCTGTTG	0.545													---	62	---	---	19	---					
SRP54	6729	broad.mit.edu	37	14	35497348	35497350	+	In_Frame_Del	DEL	AAA	-	-			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr14:35497348_35497350delAAA	uc001wso.3	+	14	1733_1735	c.1382_1384delAAA	c.(1381-1386)caaatg>ctg	p.461_462QM>L	SRP54_uc010tpp.2_In_Frame_Del_p.412_413QM>L|SRP54_uc010tpq.2_In_Frame_Del_p.397_398QM>L	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	461	M-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TTGAACCAACAAATGGCCAAAAT	0.389													---	38	---	---	20	---					
MAP1A	4130	broad.mit.edu	37	15	43820181	43820183	+	In_Frame_Del	DEL	CTC	-	-			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr15:43820181_43820183delCTC	uc001zrt.3	+	3	6977_6979	c.6510_6512delCTC	c.(6508-6513)ttctcc>ttc	p.S2172del		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2172						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.S2172L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTTTGGCTTCTCCTCATTGCAG	0.621													---	28	---	---	50	---					
TFIP11	24144	broad.mit.edu	37	22	26895102	26895103	+	Frame_Shift_Ins	INS	-	A	A			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chr22:26895102_26895103insA	uc003acr.2	-	7	1670_1671	c.1296_1297insT	c.(1294-1299)atgaagfs	p.M432fs	TFIP11_uc003acs.2_Frame_Shift_Ins_p.M432fs|TFIP11_uc003act.2_Frame_Shift_Ins_p.M432fs	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	432					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AAGTACTCCTTCATGAGTGGAT	0.525													---	49	---	---	30	---					
TSPAN7	7102	broad.mit.edu	37	X	38533500	38533500	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19J-06A-11D-A196-08	TCGA-ER-A19J-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d053f88f-09e6-472e-a691-bb293c461399	e7b47cec-4001-4426-81a0-86b345a56800	g.chrX:38533500delA	uc011mkj.2	+	5	658	c.449delA	c.(448-450)tacfs	p.Y150fs	TSPAN7_uc004deg.4_Frame_Shift_Del_p.Y124fs|TSPAN7_uc011mkk.2_Frame_Shift_Del_p.Y141fs			P41732	TSN7_HUMAN	Homo sapiens tetraspanin 7 (TSPAN7), mRNA.	124					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGAGGACTTACACGGACGCT	0.512													---	4	---	---	2	---