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
ANK1	286	broad.mit.edu	37	8	41552191	41552191	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:41552191G>A	uc003xok.3	-	27	3330	c.3246C>T	c.(3244-3246)tcC>tcT	p.S1082S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.S398S|ANK1_uc003xoi.3_Silent_p.S1082S|ANK1_uc003xoj.3_Silent_p.S1082S|ANK1_uc003xol.3_Silent_p.S1082S|ANK1_uc003xom.3_Silent_p.S1123S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1082					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCTCTTCAGGGAGCCCCCTT	0.612000														49			22		0	0	0.002780	0	0
ADAM30	11085	broad.mit.edu	37	1	120437405	120437405	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:120437405G>A	uc001eij.3	-	0	1743	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	519	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CACTCACTAGGAGCCTCCATG	0.418000														424			167		0	0	0.003610	0	0
OR10K1	391109	broad.mit.edu	37	1	158435597	158435597	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:158435597G>A	uc010pij.2	+	0	246	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCAAGATGCTGGTTGACCTGC	0.483000														132			155		0	0	0.003610	0	0
TMEM48	55706	broad.mit.edu	37	1	54238032	54238032	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:54238032C>T	uc001cvs.3	-	16	2222	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	TMEM48_uc010onu.2_Missense_Mutation_p.R604Q|TMEM48_uc001cvt.3_Missense_Mutation_p.R521Q|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_Missense_Mutation_p.R309Q	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	644					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						AGTAGTTATTCGATAGATGGC	0.393000														84			36		0	0	0.004878	0	0
VTI1A	143187	broad.mit.edu	37	10	114575103	114575103	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:114575103C>T	uc001kzz.3	+	7	991	c.615C>T	c.(613-615)acC>acT	p.T205T		NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TGGTCATCACCATCCTGATGG	0.438000			T	TCF7L2	colorectal									41			28		0	0	0.002445	0	0
OR10J1	26476	broad.mit.edu	37	1	159410389	159410389	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:159410389G>A	uc010piv.2	+	0	878	c.841G>A	c.(841-843)Gac>Aac	p.D281N	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	281					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAGAGAACATGACCAGCTGAT	0.517000														121			22		0	0	0.002299	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900423	41900423	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:41900423G>A	uc010skn.2	+	3	1017	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N	PDZRN4_uc001rmq.4_Missense_Mutation_p.D79N|PDZRN4_uc009zjz.3_Missense_Mutation_p.D77N|PDZRN4_uc001rmr.3_5'Flank	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	337							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CACTCAGACGGACATCACCTT	0.527000														38			25		0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179484829	179484829	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:179484829C>T	uc021vsy.1	-	197	38836	c.38611G>A	c.(38611-38613)Gaa>Aaa	p.E12871K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.E6566K|TTN_uc021vta.1_Missense_Mutation_p.E6499K|TTN_uc021vtb.1_Missense_Mutation_p.E6374K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13798							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)			CCATCTTTTTCAAATTTGTAT	0.363000														63			28		0	0	0.006320	0	0
SLC35C2	51006	broad.mit.edu	37	20	44980726	44980727	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr20:44980726_44980727GG>AA	uc010zxp.2	-	8	980_981	c.887_888CC>TT	c.(886-888)acc>aTT	p.T296I	SLC35C2_uc002xro.3_Missense_Mutation_p.T267I|SLC35C2_uc002xrp.3_Missense_Mutation_p.T246I|SLC35C2_uc002xrq.3_Missense_Mutation_p.T267I|SLC35C2_uc002xrr.3_Missense_Mutation_p.T267I|SLC35C2_uc010zxn.2_Missense_Mutation_p.T132I|SLC35C2_uc010zxo.2_Missense_Mutation_p.T153I	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	267					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TGAGGCTGGAGGTTCTGGAGAC	0.584000														48			11		0	0	0.004672	0	0
NIPAL2	79815	broad.mit.edu	37	8	99208211	99208211	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:99208211G>A	uc003yim.1	-	8	1159	c.903C>T	c.(901-903)ttC>ttT	p.F301F	NIPAL2_uc011lgw.1_Silent_p.F97F|NIPAL2_uc003yil.1_Silent_p.F301F			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	301						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GAGCACCAAGGAATTCCTGAT	0.284000														48			8		0	0	0.004482	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616248	140616248	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:140616248T>C	uc003ljc.1	+	0	2311	c.1963T>C	c.(1963-1965)Ttc>Ctc	p.F655L						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGTGTTCCTGTTCGTGGCGGT	0.682000														93			44		0	0	0.003610	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601663	7601663	+	Silent	SNP	C	T	T	rs148291598	byFrequency	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:7601663C>T	uc003mxr.3	+	4	560	c.501C>T	c.(499-501)ttC>ttT	p.F167F	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	167					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCTATGATTTCGTAGTTGAGG	0.378000														64			34		0	0	0.003271	0	0
FLG	2312	broad.mit.edu	37	1	152282094	152282095	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:152282094_152282095CC>TT	uc001ezu.1	-	2	5303_5304	c.5267_5268GG>AA	c.(5266-5268)ggg>gAA	p.G1756E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1756	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCTTTCCCCTGACTGGCC	0.599000									Ichthyosis					183			192		0	0	0.004672	0	0
ABCC6	368	broad.mit.edu	37	16	16276350	16276350	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:16276350C>T	uc002den.4	-	16	2203	c.2166G>A	c.(2164-2166)ctG>ctA	p.L722L	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	722	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTACTCTCTCCAGCCAGGGTG	0.587000														27			23		0	0	0.002299	0	0
RGS18	64407	broad.mit.edu	37	1	192153683	192153683	+	Nonstop_Mutation	SNP	A	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:192153683A>T	uc001gsg.3	+	4	883	c.707A>T	c.(706-708)tAa>tTa	p.*236L		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	0					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATTTGGTTATAAAGAAAATTG	0.348000														47			6		0	0	0.001168	0	0
NYAP2	57624	broad.mit.edu	37	2	226378250	226378250	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:226378250G>A	uc002voe.2	+	2	560	c.385G>A	c.(385-387)Gat>Aat	p.D129N	NYAP2_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	129																	GGGCACAGACGATGACAGCAG	0.572000														42			21		0	0	0.002299	0	0
TACC1	6867	broad.mit.edu	37	8	38699874	38699875	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:38699874_38699875CC>TT	uc010lwp.3	+	9	2409_2410	c.2030_2031CC>TT	c.(2029-2031)gcc>gTT	p.A677V	TACC1_uc003xma.3_Missense_Mutation_p.A115V|TACC1_uc003xmb.4_Missense_Mutation_p.A603V|TACC1_uc003xlz.3_Missense_Mutation_p.A482V|TACC1_uc003xmc.4_Missense_Mutation_p.A481V|TACC1_uc011lbz.2_Missense_Mutation_p.A664V|TACC1_uc003xmf.4_Missense_Mutation_p.A267V|TACC1_uc011lca.2_Missense_Mutation_p.A660V|TACC1_uc011lcb.2_Missense_Mutation_p.A453V|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Missense_Mutation_p.A494V|TACC1_uc010lwq.3_Missense_Mutation_p.A493V	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	677					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AAGGAACAGGCCCTGGCTGACC	0.455000														142			25		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179576846	179576846	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:179576846G>A	uc021vsy.1	-	92	24204	c.23979C>T	c.(23977-23979)tcC>tcT	p.S7993S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S4654S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8920	Ig-like 62.						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)			CTTTATACCAGGATACCCCAA	0.423000														58			23		0	0	0.002299	0	0
COL12A1	1303	broad.mit.edu	37	6	75833060	75833060	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:75833060G>A	uc021zbv.1	-	41	6967	c.6932C>T	c.(6931-6933)cCa>cTa	p.P2311L	COL12A1_uc021zbw.1_Missense_Mutation_p.P1147L|COL12A1_uc003phs.3_Missense_Mutation_p.P2311L|COL12A1_uc003pht.3_Missense_Mutation_p.P1147L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2311					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCGGGCTGGTGGAATGGTGGG	0.428000														8			4		0	0	0.000248	0	0
LSM3	27258	broad.mit.edu	37	3	14239547	14239547	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:14239547G>A	uc003byn.3	+	3	373	c.240G>A	c.(238-240)cgG>cgA	p.R80R	AX747368_uc003byo.1_5'Flank	NM_014463	NP_055278	P62310	LSM3_HUMAN	Homo sapiens LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM3), mRNA.	80					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	RNA binding|protein binding	p.R80R(2)		central_nervous_system(1)|large_intestine(2)|ovary(1)	4						CAACGAAACGGAATATTCCAA	0.398000														51			15		0	0	0.003163	0	0
KCNG4	93107	broad.mit.edu	37	16	84270876	84270876	+	Silent	SNP	G	A	A	rs141435784		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:84270876G>A	uc010voc.2	-	1	337	c.216C>T	c.(214-216)ctC>ctT	p.L72L	KCNG4_uc002fhu.1_Silent_p.L72L	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	72						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGCTCCAGGGGAGGAGATACC	0.617000														35			24		0	0	0.003954	0	0
LOXL2	4017	broad.mit.edu	37	8	23167234	23167234	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:23167234G>A	uc003xdh.1	-	9	2166	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	LOXL2_uc010lty.1_Silent_p.S148S	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	609	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCGGAAGTCGGACTGGCCAT	0.677000														22			16		0	0	0.004990	0	0
SLC16A14	151473	broad.mit.edu	37	2	230914547	230914547	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:230914547G>A	uc002vqd.2	-	2	792	c.333C>T	c.(331-333)tcC>tcT	p.S111S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.S111S|SLC16A14_uc002vqf.3_Silent_p.S111S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	111						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)		CCCAGCCCAGGGAGTTGACGA	0.488000														65			30		0	0	0.003271	0	0
MYO18B	84700	broad.mit.edu	37	22	26164488	26164488	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr22:26164488C>T	uc003abz.1	+	3	855	c.605C>T	c.(604-606)tCc>tTc	p.S202F	MYO18B_uc003aca.1_Missense_Mutation_p.S83F|MYO18B_uc010guy.1_Missense_Mutation_p.S83F|MYO18B_uc010guz.1_Missense_Mutation_p.S83F|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	202						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTTGTGGCTCCCAGGCCAGC	0.597000														8			5		0	0	0.001984	0	0
GPR98	84059	broad.mit.edu	37	5	89971227	89971227	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:89971227G>A	uc003kju.3	+	23	5374	c.5278G>A	c.(5278-5280)Gtg>Atg	p.V1760M	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1760					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTTAGAACAGTGTCCTTGAC	0.443000														20			6		0	0	0.003080	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379630	67379630	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:67379630G>A	uc001omj.2	+	8	1355	c.1202G>A	c.(1201-1203)aGg>aAg	p.R401K	NDUFV1_uc010rpv.1_Missense_Mutation_p.R300K|NDUFV1_uc001omk.4_Missense_Mutation_p.R392K|NDUFV1_uc001oml.2_Missense_Mutation_p.R394K|NDUFV1_uc010rpw.1_Missense_Mutation_p.R110K	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	401					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CGTTTCGTGAGGGGGGATGCC	0.632000														90			33		0	0	0.005524	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140469	3140469	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:3140469G>A	uc002ctv.1	-	4	889	c.801C>T	c.(799-801)tcC>tcT	p.S267S	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.S185S|ZSCAN10_uc002ctx.1_Silent_p.S195S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	267					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGCCAAGAAGGGACCCATCTT	0.642000														97			33		0	0	0.002445	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632310	156632310	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:156632310C>T	uc003iov.3	+	6	1529	c.993C>T	c.(991-993)atC>atT	p.I331I	GUCY1A3_uc003iou.2_Silent_p.I331I|GUCY1A3_uc010iqc.2_Silent_p.I331I|GUCY1A3_uc010iqd.3_Silent_p.I330I|GUCY1A3_uc003iow.3_Silent_p.I331I|GUCY1A3_uc003iox.3_Silent_p.I331I|GUCY1A3_uc010iqe.3_Silent_p.I96I|GUCY1A3_uc003ioy.3_Silent_p.I331I|GUCY1A3_uc003ioz.3_Silent_p.I96I|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.I331I	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	331					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTCCAAAAATCAACCAGACGT	0.398000														44			19		0	0	0.007413	0	0
PRR11	55771	broad.mit.edu	37	17	57262485	57262485	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:57262485C>T	uc002ixf.2	+	2	511	c.199C>T	c.(199-201)Cct>Tct	p.P67S	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	67										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTCAATTTTCCTAACATCAG	0.373000														72			24		0	0	0.003330	0	0
MAD2L2	10459	broad.mit.edu	37	1	11736105	11736106	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:11736105_11736106GG>AA	uc001asp.3	-	5	836_837	c.424_425CC>TT	c.(424-426)cca>TTa	p.P142L	MAD2L2_uc009vnc.3_Missense_Mutation_p.P142L|MAD2L2_uc001asq.4_Missense_Mutation_p.P142L	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 2 (yeast) (MAD2L2), transcript variant 2, mRNA.	142	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				DNA damage response, signal transduction resulting in transcription|cell division|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGACACACCTGGGGGGTTGTGG	0.574000								DNA polymerases (catalytic subunits)						40			13		0	0	0.004672	0	0
NASP	4678	broad.mit.edu	37	1	46073706	46073706	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:46073706C>T	uc001coi.2	+	5	1282	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	NASP_uc010olq.2_Missense_Mutation_p.P338S|NASP_uc021omz.1_Missense_Mutation_p.P377S|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Missense_Mutation_p.P311S|NASP_uc001cok.2_Missense_Mutation_p.P258S	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	375	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	p.P374T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCCAGTTCTCCCTAAGGATGG	0.502000														149			48		0	0	0.003610	0	0
PPFIA4	8497	broad.mit.edu	37	1	203040846	203040846	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:203040846C>T	uc009xaj.3	+	32	3726	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	PPFIA4_uc010pqf.2_Silent_p.F824F|PPFIA4_uc001gyz.3_Silent_p.F611F|PPFIA4_uc001gza.3_Silent_p.F602F|PPFIA4_uc001gzb.1_Silent_p.F297F|PPFIA4_uc001gzc.1_Silent_p.F153F			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	611					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AAAGAGAGTTCAATAACCTGT	0.498000														14			12		0	0	0.002450	0	0
MEIS3	56917	broad.mit.edu	37	19	47910355	47910355	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:47910355G>A	uc002pgq.3	-	9	1284	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	MEIS3_uc002pgo.3_Silent_p.I124I|MEIS3_uc002pgp.3_Silent_p.I157I|MEIS3_uc002pgr.3_Silent_p.I193I|MEIS3_uc002pgs.3_Silent_p.I371I|MEIS3_uc002pgt.3_Silent_p.I308I|MEIS3_uc010eld.3_Silent_p.I371I	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	325						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGGATTGATCGATCATAGGTT	0.612000														32			8		0	0	0.006214	0	0
GCK	2645	broad.mit.edu	37	7	44190560	44190560	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:44190560C>T	uc003tkl.2	-	3	948	c.478G>A	c.(478-480)Gat>Aat	p.D160N	GCK_uc003tkj.1_Missense_Mutation_p.D159N|GCK_uc003tkk.1_Missense_Mutation_p.D161N	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	160					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCCACCTTATCGATGTCTTCG	0.567000														228			155		0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48610350	48610351	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:48610350_48610351GG>AA	uc003ctz.2	-	85	6776_6777	c.6775_6776CC>TT	c.(6775-6777)cca>TTa	p.P2259L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2259	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTCGACCTGGGGCTCCCGGC	0.634000														45			21		0	0	0.004672	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795398	142795398	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chrX:142795398C>T	uc004fbz.3	-	1	1034	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	94								p.G94V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAAGATCCTTCAGCTGAG	0.498000														115			144		0	0	0.003610	0	0
CYBB	1536	broad.mit.edu	37	X	37641395	37641395	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chrX:37641395G>A	uc004ddr.2	+	1	161	c.100G>A	c.(100-102)Gat>Aat	p.D34N	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Intron|CYBB_uc011mkg.1_5'Flank	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	34					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CCGGGTTTATGATATTCCACC	0.403000														25			16		0	0	0.007413	0	0
PCDH15	65217	broad.mit.edu	37	10	55626419	55626419	+	Missense_Mutation	SNP	C	T	T	rs143149062		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:55626419C>T	uc010qhy.1	-	27	4110	c.3715G>A	c.(3715-3717)Ggc>Agc	p.G1239S	PCDH15_uc010qhq.2_Missense_Mutation_p.G1239S|PCDH15_uc010qhr.2_Missense_Mutation_p.G1234S|PCDH15_uc021pqv.1_Missense_Mutation_p.G1234S|PCDH15_uc021pqw.1_Missense_Mutation_p.G1246S|PCDH15_uc010qht.2_Missense_Mutation_p.G1241S|PCDH15_uc021pqx.1_Missense_Mutation_p.G1234S|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G1234S|PCDH15_uc021pqz.1_Missense_Mutation_p.G1212S|PCDH15_uc010qhv.1_Missense_Mutation_p.G1234S|PCDH15_uc010qhw.1_Missense_Mutation_p.G1197S|PCDH15_uc010qhx.1_Missense_Mutation_p.G1163S|PCDH15_uc010qhz.1_Missense_Mutation_p.G1234S|PCDH15_uc010qia.1_Missense_Mutation_p.G1212S|PCDH15_uc001jju.1_Missense_Mutation_p.G1234S|PCDH15_uc010qib.1_Missense_Mutation_p.G1212S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1234	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCGGCTTTGCCGCTCAGTCCC	0.408000										HNSCC(58;0.16)				20			14		0	0	0.003163	0	0
CREB3	10488	broad.mit.edu	37	9	35733137	35733137	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr9:35733137C>T	uc003zxv.3	+	1	727	c.274C>T	c.(274-276)Cta>Tta	p.L92L	TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.4_5'Flank|CREB3_uc010mla.3_5'UTR	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	92	Transcription activation (acidic).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTCTATGGATCTAGGTGAGTC	0.532000														17			19		0	0	0.006122	0	0
OR6C70	390327	broad.mit.edu	37	12	55863568	55863568	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:55863568C>T	uc010spn.2	-	0	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ACATAGCGATCATAGGACAGA	0.398000														34			21		0	0	0.001523	0	0
NREP	9315	broad.mit.edu	37	5	111066668	111066669	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:111066668_111066669CC>TT	uc011cvr.2	-	3	480_481	c.288_289GG>AA	c.(286-291)ctgggc>ctAAgc	p.G97S	NREP_uc011cvs.2_Missense_Mutation_p.G87S|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Intron|NREP_uc003kpl.3_Missense_Mutation_p.G53S|NREP_uc003kpm.3_Missense_Mutation_p.G53S|NREP_uc011cvk.2_Missense_Mutation_p.G53S|NREP_uc011cvl.2_Missense_Mutation_p.G53S|NREP_uc011cvm.2_Missense_Mutation_p.G53S|NREP_uc011cvn.2_Missense_Mutation_p.G53S|NREP_uc011cvo.2_Missense_Mutation_p.G53S|NREP_uc011cvp.2_Missense_Mutation_p.G53S|NREP_uc011cvq.2_Missense_Mutation_p.G53S	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	53						cytoplasm											TCACTGCTGCCCAGTGGAGTCA	0.485000														80			44		0	0	0.004672	0	0
KIF3A	11127	broad.mit.edu	37	5	132038599	132038599	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:132038599C>T	uc011cxf.2	-	12	1779	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	KIF3A_uc003kxm.3_Missense_Mutation_p.R97H|KIF3A_uc003kxn.3_Missense_Mutation_p.R500H|KIF3A_uc003kxo.3_Missense_Mutation_p.R515H|KIF3A_uc003kxp.3_Missense_Mutation_p.R518H	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	515					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	p.R515H(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGTTCTCTGCGAAGTTGCTC	0.388000														151			52		0	0	0.003610	0	0
SHANK2	22941	broad.mit.edu	37	11	70332969	70332969	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:70332969G>A	uc001oqc.3	-	20	3343	c.3231C>T	c.(3229-3231)tcC>tcT	p.S1077S	SHANK2_uc010rqn.2_Silent_p.S553S|SHANK2_uc001opz.3_Silent_p.S548S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	764					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGCATGGGGGATGACAGCT	0.682000														40			18		0	0	0.007413	0	0
ABCD4	5826	broad.mit.edu	37	14	74764666	74764666	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:74764666G>A	uc001xpr.2	-	3	544	c.392C>T	c.(391-393)aCc>aTc	p.T131I	ABCD4_uc001xps.2_5'UTR|ABCD4_uc010tur.2_Missense_Mutation_p.T44I|ABCD4_uc001xpu.2_Intron|ABCD4_uc001xpv.2_Non-coding_Transcript	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	131	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CACGTTGAGGGTGTAGTACGC	0.567000														52			21		0	0	0.001882	0	0
LTBP1	4052	broad.mit.edu	37	2	33505184	33505184	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:33505184C>T	uc021vft.1	+	18	3094	c.3071C>T	c.(3070-3072)cCc>cTc	p.P1024L	LTBP1_uc002rou.3_Missense_Mutation_p.P698L|LTBP1_uc002rov.3_Missense_Mutation_p.P645L|LTBP1_uc010ymz.2_Missense_Mutation_p.P698L|LTBP1_uc010yna.2_Missense_Mutation_p.P645L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1024	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGTGCGTTCCCTGCACAGAA	0.423000														47			18		0	0	0.006122	0	0
COL6A6	131873	broad.mit.edu	37	3	130345357	130345357	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:130345357G>A	uc010htl.3	+	23	4938	c.4907G>A	c.(4906-4908)gGa>gAa	p.G1636E	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1636	Triple-helical region.				axon guidance|cell adhesion	collagen		p.G1636*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAGAAAAAGGAGCTGTTGGC	0.418000														73			26		0	0	0.008361	0	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:12155673A>C	uc021upl.1	-	3	709	c.543T>G	c.(541-543)agT>agG	p.S181R	ZNF878_uc002mta.1_Missense_Mutation_p.S228R	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000														269			4		0	0	0.000248	0	0
RANBP9	10048	broad.mit.edu	37	6	13642741	13642741	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:13642741C>T	uc003nbb.3	-	6	1254	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	RANBP9_uc003nba.3_Missense_Mutation_p.E58K	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	399					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GCTAATTCTTCTAGAACGGTC	0.363000														28			17		0	0	0.004990	0	0
C3orf37	56941	broad.mit.edu	37	3	129007776	129007776	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:129007776C>T	uc003elt.3	+	2	351	c.263C>T	c.(262-264)tCc>tTc	p.S88F	C3orf37_uc003elu.3_Missense_Mutation_p.S88F|C3orf37_uc003elv.3_Missense_Mutation_p.S88F|C3orf37_uc003elw.3_Missense_Mutation_p.S88F	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	Homo sapiens chromosome 3 open reading frame 37 (C3orf37), transcript variant 2, mRNA.	88										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						AGTGATCCTTCCAAGCTGCAG	0.488000														67			20		0	0	0.001882	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963644	88963644	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:88963644G>A	uc011khi.2	+	3	1886	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	450						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAAAGCAAGGATGGCCACAC	0.398000										HNSCC(36;0.09)				89			24		0	0	0.004656	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319128	21319128	+	Silent	SNP	C	T	T	rs146165782	byFrequency	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:21319128C>T	uc021tss.1	+	2	844	c.474C>T	c.(472-474)gcC>gcT	p.A158A	KCNJ18_uc002gyv.1_Silent_p.A158A|KCNJ18_uc021tst.1_Silent_p.A158A	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	158						integral to membrane	inward rectifier potassium channel activity										GCCCGGTGGCCGTCTTCATGG	0.622000														48			8		0	0	0.003080	0	0
TIMD4	91937	broad.mit.edu	37	5	156349165	156349165	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:156349165G>A	uc003lwh.2	-	6	1014	c.957C>T	c.(955-957)atC>atT	p.I319I	TIMD4_uc010jii.2_Silent_p.I291I|TIMD4_uc003lwg.2_Silent_p.I21I	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	319						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAGGGGGCGATGATCATCA	0.527000														260			102		0	0	0.003610	0	0
COPS2	9318	broad.mit.edu	37	15	49437178	49437178	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:49437178A>G	uc001zxh.3	-	1	231	c.152T>C	c.(151-153)tTa>tCa	p.L51S	COPS2_uc001zxf.3_Missense_Mutation_p.L51S|COPS2_uc010ufa.2_Intron	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	51					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GAAACTGCTTAATGCCGCTTT	0.328000														67			21		0	0	0.001523	0	0
AHDC1	27245	broad.mit.edu	37	1	27875200	27875201	+	Silent	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:27875200_27875201GG>AA	uc021ojw.1	-	0	3426_3427	c.3426_3427CC>TT	c.(3424-3429)atcctg>atTTtg	p.1142_1143IL>IL	AHDC1_uc009vsy.3_Silent_p.1142_1143IL>IL|AHDC1_uc009vsz.1_Silent_p.1142_1143IL>IL	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1142							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGATGTCCAGGATCACGTTGG	0.574000														67			18		0	0	0.004672	0	0
GGCX	2677	broad.mit.edu	37	2	85777220	85777220	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:85777220T>C	uc002sps.3	-	14	2220	c.2114A>G	c.(2113-2115)aAt>aGt	p.N705S	GGCX_uc010yss.2_Missense_Mutation_p.N521S|GGCX_uc010yst.2_Missense_Mutation_p.N648S	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	705					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	p.R704Q(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TAATATCAGATTTCGAAGTGA	0.463000														45			17		0	0	0.007413	0	0
EPHB2	2048	broad.mit.edu	37	1	23111292	23111292	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:23111292C>T	uc009vqj.1	+	2	679	c.534C>T	c.(532-534)ttC>ttT	p.F178F	EPHB2_uc001bge.3_Silent_p.F178F|EPHB2_uc001bgf.3_Silent_p.F178F|EPHB2_uc010odu.2_Silent_p.F178F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	178					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCTGGCCTTCCAGGACTATG	0.612000														28			7		0	0	0.001984	0	0
TCF23	150921	broad.mit.edu	37	2	27372192	27372192	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:27372192G>A	uc010ylg.2	+	0	248	c.191G>A	c.(190-192)gGg>gAg	p.G64E		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	64					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.R63R(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTCGAGGGACCAGGGCT	0.632000														7			3		0	0	0.004672	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565894	18565894	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:18565894T>G	uc010vyd.1	-	4	1176	c.925A>C	c.(925-927)Aca>Cca	p.T309P		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GAGCTTTCTGTGAAGGTTTTC	0.383000														51			11		0	0	0.000978	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936379	54936379	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:54936379C>T	uc001sgc.4	+	30	3373	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F	NCKAP1L_uc010sox.2_Silent_p.F640F|NCKAP1L_uc010soy.2_Silent_p.F1048F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1098					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGTCATCCTTCCTGACCCTGG	0.527000														123			38		0	0	0.002222	0	0
CCDC61	729440	broad.mit.edu	37	19	46511402	46511402	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:46511402C>T	uc002pdw.3	+	5	565	c.565C>T	c.(565-567)Cac>Tac	p.H189Y	CCDC61_uc021uwd.1_Missense_Mutation_p.H132Y	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CCTCAGGATTCACTACCCGCT	0.587000														18			8		0	0	0.003080	0	0
NLRC4	58484	broad.mit.edu	37	2	32461352	32461352	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:32461352G>A	uc002roi.3	-	6	2839	c.2578C>T	c.(2578-2580)Ctg>Ttg	p.L860L	NLRC4_uc021vfq.1_Silent_p.L860L|NLRC4_uc002roj.2_Silent_p.L860L|NLRC4_uc010ezt.2_Silent_p.L195L	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	860					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTTTTTCCAGGTAATTTTCT	0.318000														47			16		0	0	0.004990	0	0
ABCA8	10351	broad.mit.edu	37	17	66925340	66925340	+	Silent	SNP	C	T	T	rs143207789	by1000genomes	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:66925340C>T	uc002jhq.3	-	8	1315	c.975G>A	c.(973-975)aaG>aaA	p.K325K	ABCA8_uc002jhp.3_Silent_p.K325K|ABCA8_uc010wqq.2_Silent_p.K325K|ABCA8_uc010wqr.2_Silent_p.K264K|ABCA8_uc002jhr.3_Silent_p.K325K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	325						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.K325N(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGAAAGATTTCTTTACCAAGA	0.418000														20			18		0	0	0.001882	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555184	44555186	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr18:44555184_44555186CC>TT	uc010xdb.2	-	0	1264_1266	c.1028_1030GG>AA	c.(1027-1032)cgggtg>cAAtg	p.343_344RV>Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	343	Activation domain (By similarity).|Interaction with elongin BC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCCTAGGCACCCGGAGGCACTG	0.655000														430			22		0	0	0.004672	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747907	41747907	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:41747907C>T	uc003gwf.4	-	2	1222	c.862G>A	c.(862-864)Ggg>Agg	p.G288R		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	288					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AAGGGACCCCCAAGCGAATCC	0.667000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					42			14		0	0	0.004990	0	0
OR10W1	81341	broad.mit.edu	37	11	58034641	58034641	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:58034641G>A	uc001nmq.1	-	0	1092	c.690C>T	c.(688-690)tcC>tcT	p.S230S		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAGAGCAGGTGGAGAAGGCCC	0.587000														56			31		0	0	0.001786	0	0
RGL1	23179	broad.mit.edu	37	1	183775610	183775610	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:183775610A>T	uc001gqm.3	+	2	695	c.234A>T	c.(232-234)agA>agT	p.R78S	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Intron|RGL1_uc010poh.2_Intron|RGL1_uc001gqo.3_Missense_Mutation_p.R43S|RGL1_uc010poi.2_Missense_Mutation_p.R43S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	43	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAGGAGCAAGATGGCTAGGGG	0.453000														103			23		0	0	0.001882	0	0
IGSF10	285313	broad.mit.edu	37	3	151165605	151165605	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:151165605G>A	uc011bod.2	-	3	2164	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	722					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTAATTCCCGATAGTTGTGC	0.493000														51			17		0	0	0.004990	0	0
GPR98	84059	broad.mit.edu	37	5	89938699	89938699	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:89938699C>T	uc003kju.3	+	12	2490	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	798					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCTCCACATCATCCGATCAA	0.398000														131			38		0	0	0.006999	0	0
CCL11	6356	broad.mit.edu	37	17	32614638	32614638	+	Missense_Mutation	SNP	G	A	A	rs56358892		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:32614638G>A	uc002hia.1	+	2	364	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_002986	NP_002977	P51671	CCL11_HUMAN	Homo sapiens chemokine (C-C motif) ligand 11 (CCL11), mRNA.	75					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TATCTGTGCCGACCCCAAGAA	0.423000														27			15		0	0	0.008871	0	0
OR5B21	219968	broad.mit.edu	37	11	58274946	58274946	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:58274946G>A	uc010rki.2	-	0	633	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I211I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGAAATAAGGATGACCAGGA	0.488000														30			9		0	0	0.006214	0	0
AFF3	3899	broad.mit.edu	37	2	100623390	100623390	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:100623390G>A	uc002taf.3	-	5	796	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	AFF3_uc002tag.3_Missense_Mutation_p.L193F|AFF3_uc010fiq.1_Missense_Mutation_p.L193F|AFF3_uc010yvr.1_Missense_Mutation_p.L347F|AFF3_uc002tah.1_Missense_Mutation_p.L218F|AFF3_uc010fir.1_Missense_Mutation_p.L270F	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	193					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGGTCTGAAGGCCCACCTCC	0.577000														57			26		0	0	0.004656	0	0
COL4A3	1285	broad.mit.edu	37	2	228137771	228137771	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:228137771G>A	uc002vom.2	+	25	2027	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	622	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G622E(3)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGACCCCAAGGAGAACCTGGT	0.622000														53			27		0	0	0.004656	0	0
C17orf74	201243	broad.mit.edu	37	17	7329686	7329686	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:7329686C>T	uc002ggw.3	+	2	449	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	126	Arg-rich.					integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGTGTTcgtcgccgccgccg	0.612000														63			27		0	0	0.006320	0	0
CCDC30	728621	broad.mit.edu	37	1	43119491	43119491	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:43119491T>C	uc009vwk.1	+	15	2254	c.2144T>C	c.(2143-2145)tTt>tCt	p.F715S	CCDC30_uc001chm.2_Missense_Mutation_p.F413S|CCDC30_uc001chn.2_Missense_Mutation_p.F504S	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	715										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTTCTTAGTTTTTCAGGAAAA	0.383000														28			7		0	0	0.003080	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					52			32		0	0	0.003271	0	0
MFSD4	148808	broad.mit.edu	37	1	205553197	205553197	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:205553197C>T	uc001hcv.4	+	3	891	c.805C>T	c.(805-807)Cct>Tct	p.P269S	MFSD4_uc010prk.2_Missense_Mutation_p.P182S|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.P214S	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	269					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGAGACACAGCCTCCTGAGAA	0.577000														118			4		0	0	0.000248	0	0
ANGEL1	23357	broad.mit.edu	37	14	77269744	77269745	+	Missense_Mutation	DNP	GG	AA	AA	rs149469500	byFrequency	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:77269744_77269745GG>AA	uc001xsv.3	-	6	1700_1701	c.1587_1588CC>TT	c.(1585-1590)gtcctt>gtTTtt	p.L530F		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	530										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCTTCCATAAGGACCAGTCCTA	0.470000														53			8		0	0	0.004672	0	0
CAPN6	827	broad.mit.edu	37	X	110494267	110494267	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chrX:110494267G>A	uc004epc.2	-	7	1227	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	CAPN6_uc011msu.2_Missense_Mutation_p.P91S	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	346	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCAAAAATAGGGTTGTTCACA	0.483000														122			132		0	0	0.003610	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833617	101833617	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:101833617G>A	uc001pgm.3	+	5	2121	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K	KIAA1377_uc001pgn.3_Silent_p.K573K|KIAA1377_uc010run.2_Silent_p.K418K|KIAA1377_uc009yxa.1_Silent_p.K418K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	617							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AATTAACAAAGGAAAAAGGTG	0.313000														37			15		0	0	0.004007	0	0
ZNF302	55900	broad.mit.edu	37	19	35176128	35176128	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:35176128C>T	uc002nvr.1	+	5	1581	c.1318C>T	c.(1318-1320)Ccg>Tcg	p.P440S	ZNF302_uc002nvp.1_Missense_Mutation_p.P396S|ZNF302_uc002nvq.1_Missense_Mutation_p.P396S|ZNF302_uc002nvs.1_Missense_Mutation_p.P396S	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGAAGAAAAACCGTTTGAAGT	0.338000														44			12		0	0	0.000978	0	0
RASGRF1	5923	broad.mit.edu	37	15	79296400	79296400	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:79296400C>G	uc002beq.3	-	15	2616	c.2241G>C	c.(2239-2241)aaG>aaC	p.K747N	RASGRF1_uc002bep.3_Missense_Mutation_p.K731N|RASGRF1_uc010blm.1_Missense_Mutation_p.K656N|RASGRF1_uc002ber.4_Missense_Mutation_p.K731N|RASGRF1_uc010unh.1_Missense_Mutation_p.K142N|RASGRF1_uc002beo.3_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	747	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGACGATGTCTTGGTGATGG	0.637000														83			37		0	0	0.005524	0	0
KIF2B	84643	broad.mit.edu	37	17	51900577	51900577	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:51900577G>A	uc002iua.2	+	0	339	c.183G>A	c.(181-183)gtG>gtA	p.V61V		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	61					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.W60L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGAGTGGGTGGAGAAAGCAG	0.557000														79			36		0	0	0.004289	0	0
OR8H2	390151	broad.mit.edu	37	11	55872707	55872707	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:55872707C>T	uc010riy.2	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.418000										HNSCC(53;0.14)				209			60		0	0	0.003610	0	0
CPSF1	29894	broad.mit.edu	37	8	145625048	145625048	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:145625048G>A	uc003zcj.3	-	11	1247	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	391					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GAGGAGGAGGGAATTGCCCAG	0.652000														17			8		0	0	0.006214	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150532255	150532255	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:150532255G>A	uc009wlw.3	+	17	3189	c.3031G>A	c.(3031-3033)Ggg>Agg	p.G1011R	ADAMTSL4_uc001eux.3_Missense_Mutation_p.G988R|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.G949R|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.G151R	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	988	TSP type-1 6.				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)			CTCCTGCCAAGGGGGAACGCA	0.637000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		185			31		0	0	0.001786	0	0
ADAM28	10863	broad.mit.edu	37	8	24197052	24197052	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:24197052G>A	uc003xdy.3	+	14	1724	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.V234V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	547	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTCGCAGAGTGGATGACACAC	0.488000														14			5		0	0	0.000602	0	0
GTF3C4	9329	broad.mit.edu	37	9	135559040	135559040	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr9:135559040C>T	uc010mzv.3	+	2	2533	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	759					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	p.R759H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATTCACAGATCGCAAACAGGC	0.408000														35			21		0	0	0.001882	0	0
SUPT16H	11198	broad.mit.edu	37	14	21821653	21821654	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:21821653_21821654GG>AA	uc001wao.2	-	24	3330_3331	c.2991_2992CC>TT	c.(2989-2994)gcccga>gcTTga	p.R998*	SUPT16H_uc001wan.2_Nonsense_Mutation_p.R142*	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	998	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAACCTTTTCGGGCTTCTTCCT	0.347000														75			32		0	0	0.004672	0	0
WDFY3	23001	broad.mit.edu	37	4	85724537	85724537	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:85724537G>C	uc003hpd.3	-	15	2921	c.2513C>G	c.(2512-2514)tCt>tGt	p.S838C		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	838						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTCTGCAGAGATGAAGTTGT	0.458000														39			7		0	0	0.001984	0	0
NUPL2	11097	broad.mit.edu	37	7	23236306	23236306	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:23236306C>T	uc003svu.3	+	4	789	c.530C>T	c.(529-531)tCt>tTt	p.S177F	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	177					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308000														49			12		0	0	0.004007	0	0
OR4B1	119765	broad.mit.edu	37	11	48238934	48238934	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:48238934C>T	uc010rhs.2	+	0	573	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F191L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTGACACCTTCATGGAGGGGG	0.453000														94			24		0	0	0.003330	0	0
SLC10A7	84068	broad.mit.edu	37	4	147204418	147204418	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:147204418C>T	uc010ioz.2	-	10	1028	c.774_splice	c.e10-1	p.R258_splice	SLC10A7_uc003ikr.2_Splice_Site_p.R258_splice|SLC10A7_uc010ipa.2_Splice_Site_p.R245_splice|SLC10A7_uc003iks.2_Splice_Site	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	258						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					CGAATTATTCCTAGGGGCAAA	0.343000														32			12		0	0	0.001368	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708704	94708704	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:94708704G>A	uc001ycs.1	+	10	1379	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	409						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCATGACCCTGAAGTACCAGT	0.383000														104			40		0	0	0.008740	0	0
APOB	338	broad.mit.edu	37	2	21230262	21230262	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:21230262C>T	uc002red.3	-	25	9606	c.9478G>A	c.(9478-9480)Gaa>Aaa	p.E3160K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3160					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.K3159N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAAGAATTCCTTCAAGCCT	0.358000														405			135		0	0	0.003610	0	0
BAG6	7917	broad.mit.edu	37	6	31611729	31611729	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:31611729G>T	uc003nvg.4	-	12	1918	c.1604C>A	c.(1603-1605)gCc>gAc	p.A535D	BAG6_uc003nvf.4_Missense_Mutation_p.A529D|BAG6_uc003nvi.4_Missense_Mutation_p.A529D|BAG6_uc003nvh.4_Missense_Mutation_p.A529D|BAG6_uc011dnw.2_Missense_Mutation_p.A529D|BAG6_uc011dnx.2_Missense_Mutation_p.A528D	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	535	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			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGCCAACGAGGCATTGGTACC	0.552000														236			43		1.86633e-21	2.12837e-21	0.003610	1	0
BRD4	23476	broad.mit.edu	37	19	15383775	15383775	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:15383775G>A	uc002nar.3	-	1	358	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	BRD4_uc002nas.3_Missense_Mutation_p.P46S|BRD4_uc002nat.3_Missense_Mutation_p.P46S|BRD4_uc002nau.4_Missense_Mutation_p.P46S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	46					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTGGGGGCGGGGGGTTGGTG	0.557000			T	C15orf55	lethal midline carcinoma of young people									128			48		0	0	0.003610	0	0
SDHAP2	727956	broad.mit.edu	37	3	195410687	195410687	+	Missense_Mutation	SNP	T	A	A	rs6583274	by1000genomes	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:195410687T>A	uc003fuw.3	+	12	1778	c.584T>A	c.(583-585)gTg>gAg	p.V195E	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCCTTTGAGGTGCACTGGAGG	0.567000														19			4		0	0	0.000248	0	0
EIF2B1	1967	broad.mit.edu	37	12	124111662	124111662	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:124111662G>A	uc001ufm.3	-	4	630	c.411C>T	c.(409-411)gtC>gtT	p.V137V	EIF2B1_uc010tat.2_Silent_p.V137V	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	137					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CTGCTTCCAGGACTCTCAGGA	0.527000														77			21		0	0	0.002299	0	0
LRP1B	53353	broad.mit.edu	37	2	141777614	141777614	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:141777614G>A	uc002tvj.1	-	11	2819	c.1847C>T	c.(1846-1848)aCc>aTc	p.T616I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	616					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATCATTGGTCCAGTAAAG	0.398000										TSP Lung(27;0.18)				84			22		0	0	0.003330	0	0
SOX11	6664	broad.mit.edu	37	2	5833922	5833922	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:5833922G>A	uc002qyj.3	+	0	1124	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N		NM_003108	NP_003099	P35716	SOX11_HUMAN	Homo sapiens SRY (sex determining region Y)-box 11 (SOX11), mRNA.	357					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|enhancer sequence-specific DNA binding|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		cagcggcGAGGACGCCGACGA	0.726000														4			4		0	0	0.000248	0	0
DZIP1L	199221	broad.mit.edu	37	3	137787113	137787114	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:137787113_137787114GG>AA	uc003erq.3	-	12	2074_2075	c.1711_1712CC>TT	c.(1711-1713)cca>TTa	p.P571L		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	571						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACGAGTTGGTGGGGGTGGCTCT	0.663000														542			194		0	0	0.004672	0	0
TLE4	7091	broad.mit.edu	37	9	82319812	82319812	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr9:82319812C>T	uc004ald.3	+	8	1552	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	TLE4_uc004alc.3_Missense_Mutation_p.R242C|TLE4_uc010mpr.3_Missense_Mutation_p.R121C|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.R210C|TLE4_uc010mps.3_Missense_Mutation_p.R235C|TLE4_uc004alf.3_Missense_Mutation_p.R181C	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AATTGCAGCTCGTTATGTAAG	0.463000														43			36		0	0	0.004289	0	0
SPRR3	6707	broad.mit.edu	37	1	152975920	152975920	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:152975920C>T	uc021ozo.1	+	0	424	c.424C>T	c.(424-426)Cct>Tct	p.P142S	SPRR3_uc001fax.4_Missense_Mutation_p.P142S|SPRR3_uc001faz.4_Missense_Mutation_p.P142S|SPRR3_uc001fay.2_Missense_Mutation_p.P134S	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	142	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAAAGTTCCTGTGCCAGG	0.532000														20			25		0	0	0.002780	0	0
CLPB	81570	broad.mit.edu	37	11	72145245	72145245	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:72145245G>A	uc001osj.3	-	0	324	c.274C>T	c.(274-276)Cct>Tct	p.P92S	CLPB_uc010rqx.2_Missense_Mutation_p.S11F|CLPB_uc010rqy.2_Missense_Mutation_p.P92S|CLPB_uc001osk.3_Missense_Mutation_p.P92S|CLPB_uc010rqz.2_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	92					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCGGGACCAGGAAGGCGTCCC	0.687000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		200			90		0	0	0.003610	0	0
OR4M1	441670	broad.mit.edu	37	14	20248933	20248933	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:20248933G>T	uc010tku.2	+	0	452	c.452G>T	c.(451-453)gGg>gTg	p.G151V		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTGGATGGGGGGCTTCATT	0.498000														374			66		1.25706e-45	1.44182e-45	0.003610	1	0
IRAK2	3656	broad.mit.edu	37	3	10254984	10254984	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:10254984G>A	uc003bve.1	+	4	698	c.622G>A	c.(622-624)Gat>Aat	p.D208N		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	208					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCAGGCAACCGATGACTTCAA	0.522000														56			19		0	0	0.006122	0	0
CLIP2	7461	broad.mit.edu	37	7	73814775	73814775	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:73814775C>T	uc003uam.3	+	14	3283	c.2956C>T	c.(2956-2958)Ctg>Ttg	p.L986L	CLIP2_uc003uan.3_Silent_p.L951L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	986						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCTTCTGCGGCTGCAGCACCA	0.632000														29			12		0	0	0.001368	0	0
FLNC	2318	broad.mit.edu	37	7	128489437	128489437	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:128489437G>A	uc003vnz.4	+	29	5213	c.5004G>A	c.(5002-5004)gtG>gtA	p.V1668V	FLNC_uc003voa.4_Silent_p.V1668V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1668				V -> M (in Ref. 3; CAB46442).	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGATCACGGTGGATGCCAAGG	0.637000														48			15		0	0	0.002450	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791208	91791208	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:91791208C>A	uc010aty.3	-	11	1411	c.1257G>T	c.(1255-1257)gaG>gaT	p.E419D		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	419					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTGTGCAATCTCAAGGACCA	0.547000														65			25		9.57634e-11	1.08586e-10	0.003330	1	0
RCN3	57333	broad.mit.edu	37	19	50040373	50040373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:50040373C>T	uc002poj.3	+	3	976	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	TRNA_Lys_uc021uxn.1_5'Flank	NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	177	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GGTGGCCGACCAGGATGGGGA	0.602000														129			52		0	0	0.003610	0	0
ATRNL1	26033	broad.mit.edu	37	10	117001393	117001393	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:117001393C>T	uc001lcg.3	+	9	1952	c.1566C>T	c.(1564-1566)taC>taT	p.Y522Y		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	522						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGCCAGATACCTTCATTCAG	0.333000														30			14		0	0	0.003163	0	0
PSG9	5678	broad.mit.edu	37	19	43763198	43763198	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:43763198C>T	uc002owd.4	-	3	898	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Missense_Mutation_p.E174K|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	267	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTGTAGTTCTCACTCTTAGGT	0.498000														185			85		0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94436522	94436522	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:94436522C>T	uc011cdt.2	+	12	2411	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L	GRID2_uc011cdu.2_Missense_Mutation_p.S623L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	718					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S718L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGCAATGGATCGGAGAACAAT	0.468000														51			14		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720785	140720785	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:140720785C>T	uc003ljk.2	+	0	2432	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Silent_p.F749F|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGCTTTCCTGCAGACCT	0.627000														67			22		0	0	0.003954	0	0
ZBED2	79413	broad.mit.edu	37	3	111312580	111312580	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:111312580C>T	uc003dxy.3	-	1	1370	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E157K	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	157							DNA binding|metal ion binding	p.R156R(1)		large_intestine(3)|lung(1)|skin(2)	6						ACCTCCTTTTCCCTTTGGCTG	0.627000														73			28		0	0	0.001786	0	0
CNGB1	1258	broad.mit.edu	37	16	57984328	57984328	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:57984328G>A	uc002emt.2	-	12	1056	c.991C>T	c.(991-993)Cca>Tca	p.P331S	CNGB1_uc010cdh.2_Missense_Mutation_p.P325S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	331					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCATAAGCTGGAACCACCTCT	0.517000														60			30		0	0	0.004289	0	0
DNAH10	196385	broad.mit.edu	37	12	124283838	124283838	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:124283838G>A	uc001uft.4	+	12	1880	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	DNAH10_uc010tav.1_Missense_Mutation_p.E161K|DNAH10_uc010taw.1_Missense_Mutation_p.E104K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	619	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGGAGTATGAAGACAGAAA	0.443000														31			10		0	0	0.000978	0	0
MGAT5B	146664	broad.mit.edu	37	17	74922712	74922712	+	Silent	SNP	G	A	A	rs144217759		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:74922712G>A	uc002jti.3	+	8	1327	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	MGAT5B_uc002jth.3_Silent_p.T397T	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	397						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTCGGGACGGAACCTGCGT	0.622000														32			11		0	0	0.008291	0	0
PCSK9	255738	broad.mit.edu	37	1	55518345	55518345	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:55518345G>A	uc001cyf.2	+	4	1042	c.680G>A	c.(679-681)gGc>gAc	p.G227D	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	227	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GACAGTCATGGCACCCACCTG	0.632000														221			94		0	0	0.003610	0	0
SEMA7A	8482	broad.mit.edu	37	15	74706984	74706984	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:74706984G>A	uc002axv.3	-	9	1238	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	SEMA7A_uc010ulk.2_Missense_Mutation_p.P235S|SEMA7A_uc010ull.2_Missense_Mutation_p.P386S	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	400	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.T399T(3)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGGAACAATGGCGTCTTCAGA	0.587000														100			37		0	0	0.003755	0	0
MUC4	4585	broad.mit.edu	37	3	195493597	195493597	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:195493597G>A	uc021xjp.1	-	7	13711	c.13555C>T	c.(13555-13557)Cca>Tca	p.P4519S	MUC4_uc003fuz.3_Intron|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_Intron|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Intron|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.P28S|MUC4_uc021xjn.1_Missense_Mutation_p.P208S|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.P83S|MUC4_uc021xjj.1_Missense_Mutation_p.P83S|MUC4_uc021xjk.1_Missense_Mutation_p.P260S|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.P283S|MUC4_uc003fvp.3_Missense_Mutation_p.P232S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1276					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACATCAGTGGGCTGTTTTCG	0.537000														33			12		0	0	0.003163	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154524607	154524607	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:154524607C>A	uc001fff.1	-	7	1019	c.928G>T	c.(928-930)Gaa>Taa	p.E310*		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	310							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCGGCTCCTTCTTTCTCTTTG	0.498000														120			24		1.04121e-07	1.17728e-07	0.005443	1	0
XIRP1	165904	broad.mit.edu	37	3	39226585	39226585	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:39226585T>C	uc003cjk.2	-	1	4581	c.4352A>G	c.(4351-4353)gAa>gGa	p.E1451G	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.E134G|XIRP1_uc021wvz.1_Missense_Mutation_p.E1451G	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1451							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTGGGAACCTTCCATGGGCTG	0.622000														120			37		0	0	0.007835	0	0
GPCPD1	56261	broad.mit.edu	37	20	5566885	5566885	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr20:5566885G>A	uc002wme.4	-	4	475	c.262C>T	c.(262-264)Cac>Tac	p.H88Y	GPCPD1_uc002wmd.4_5'Flank	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	88	CBM20.|Substrate binding (Potential).				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	p.V87F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TCCCACTTGTGAACTATCACT	0.368000														85			21		0	0	0.002780	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629799	7629799	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:7629799G>A	uc002cys.2	+	5	1279	c.291G>A	c.(289-291)ccG>ccA	p.P97P	RBFOX1_uc010buf.1_Silent_p.P97P|RBFOX1_uc002cyr.1_Silent_p.P96P|RBFOX1_uc002cyt.2_Silent_p.P97P|RBFOX1_uc010uxz.1_Silent_p.P140P|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Silent_p.P97P|RBFOX1_uc010uyb.1_Silent_p.P97P|RBFOX1_uc002cyw.2_Silent_p.P117P|RBFOX1_uc002cyy.2_Silent_p.P117P|RBFOX1_uc002cyx.2_Silent_p.P117P|RBFOX1_uc010uyc.1_Silent_p.P117P	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	97					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACGCAGCACCGACGGATGGCC	0.522000														48			14		0	0	0.003163	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60015474	60015474	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr18:60015474G>A	uc002lin.3	+	1	187	c.149G>A	c.(148-150)tGt>tAt	p.C50Y	TNFRSF11A_uc010dpv.3_Missense_Mutation_p.C50Y	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	50					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGTAACAAATGTGAACCAGGT	0.463000														35			23		0	0	0.003330	0	0
TLR6	10333	broad.mit.edu	37	4	38828821	38828821	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:38828821C>T	uc010ifg.2	-	1	2395	c.2274G>A	c.(2272-2274)cgG>cgA	p.R758R	TLR6_uc003gtm.3_Silent_p.R758R	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	758	TIR.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.R758Q(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAAATAAGTCCGCTGCGTCA	0.428000														100			33		0	0	0.003755	0	0
KANK3	256949	broad.mit.edu	37	19	8389978	8389978	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:8389978C>T	uc010dwa.3	-	7	2005	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	647										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACCTCGCAGGCCCCTGGGAGA	0.642000														32			8		0	0	0.003080	0	0
MARS	4141	broad.mit.edu	37	12	57906612	57906613	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:57906612_57906613GG>AA	uc001sog.3	+	14	1986_1987	c.1832_1833GG>AA	c.(1831-1833)ggg>gAA	p.G611E	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srq.1_Missense_Mutation_p.G377E|MARS_uc001soh.1_Missense_Mutation_p.G6E	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	611					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	p.T610T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CAGGACACGGGGATCCCTGCTG	0.545000														116			39		0	0	0.004672	0	0
AQR	9716	broad.mit.edu	37	15	35212628	35212628	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:35212628T>A	uc001ziv.3	-	13	1307	c.1126A>T	c.(1126-1128)Aca>Tca	p.T376S		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	376						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGGTGGAGTGTGTTTGAACTG	0.318000														17			6		0	0	0.003080	0	0
ZNF384	171017	broad.mit.edu	37	12	6781621	6781621	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:6781621G>A	uc010sfh.2	-	7	1259	c.989C>T	c.(988-990)tCc>tTc	p.S330F	ZNF384_uc001qqa.3_Intron|ZNF384_uc001qqd.3_Intron	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGCCAGGTAGGAGGTGTTGGC	0.622000			T	"""EWSR1, TAF15 """	ALL									32			10		0	0	0.006214	0	0
TPX2	22974	broad.mit.edu	37	20	30381768	30381768	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr20:30381768C>T	uc002wwp.1	+	13	2325	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*	TPX2_uc010gdv.1_Nonsense_Mutation_p.R579*	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	543					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GTTTGATTCTCGAGACAAAGA	0.418000														80			34		0	0	0.002836	0	0
TRIM3	10612	broad.mit.edu	37	11	6477304	6477304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:6477304G>A	uc001mdh.3	-	7	1927	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	TRIM3_uc001mdi.3_Nonsense_Mutation_p.Q511*|TRIM3_uc010raj.2_Nonsense_Mutation_p.Q392*|TRIM3_uc009yfd.3_Nonsense_Mutation_p.Q511*|TRIM3_uc010rak.1_Nonsense_Mutation_p.Q511*	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	511					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTTACCTGAATACACTGG	0.493000														46			15		0	0	0.004990	0	0
KRT26	353288	broad.mit.edu	37	17	38928356	38928356	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:38928356G>A	uc002hvf.3	-	0	56	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	4	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCAGAAAGTCGAAAAGACATG	0.557000														54			30		0	0	0.002096	0	0
OBSCN	84033	broad.mit.edu	37	1	228467077	228467077	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:228467077C>T	uc009xez.1	+	26	7372	c.7328C>T	c.(7327-7329)tCc>tTc	p.S2443F	OBSCN_uc001hsn.3_Missense_Mutation_p.S2443F|OBSCN_uc001hsp.1_Missense_Mutation_p.S142F|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2443					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGACCTGCTCCACCATGACC	0.697000														101			27		0	0	0.008361	0	0
USP17L2	377630	broad.mit.edu	37	8	11996046	11996046	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:11996046G>A	uc003wvc.1	-	0	224	c.224C>T	c.(223-225)cCt>cTt	p.P75L	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	75					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CACCGCAGCAGGTCTCCTGCT	0.572000														255			18		0	0	0.002299	0	0
CLCN6	1185	broad.mit.edu	37	1	11896130	11896130	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:11896130C>T	uc001ate.4	+	17	2013	c.1900C>T	c.(1900-1902)Ccg>Tcg	p.P634S	CLCN6_uc010oat.2_Missense_Mutation_p.P350S|CLCN6_uc010oau.2_Missense_Mutation_p.P612S	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	634	CBS 1.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity	p.P634L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCCTTCCCGGTGGTCAC	0.557000														22			7		0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3240718	3240718	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chrX:3240718G>T	uc004crg.4	-	4	3165	c.3008C>A	c.(3007-3009)cCa>cAa	p.P1003Q		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1003						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGGGGGTTGGAGTAAGGTG	0.463000														38			39		4.32679e-17	4.92018e-17	0.006999	1	0
CSMD3	114788	broad.mit.edu	37	8	113275983	113275983	+	Silent	SNP	G	A	A	rs61754530		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:113275983G>A	uc003ynu.3	-	60	9906	c.9747C>T	c.(9745-9747)ttC>ttT	p.F3249F	CSMD3_uc003yns.3_Silent_p.F2451F|CSMD3_uc003ynt.3_Silent_p.F3209F|CSMD3_uc011lhx.2_Silent_p.F3080F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3249	Sushi 25.					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						AGCCCCAGTCGAAATTTGTTC	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				46			27		0	0	0.007291	0	0
NXF1	10482	broad.mit.edu	37	11	62569486	62569486	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:62569486G>A	uc001nvf.1	-	4	622	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NXF1_uc001nvg.1_Silent_p.F162F|NXF1_uc009yog.1_Silent_p.F205F|NXF1_uc010rmh.1_Silent_p.F25F	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	162	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTCTTCAACGAAGAACTGGG	0.522000														93			32		0	0	0.001786	0	0
SUV420H1	51111	broad.mit.edu	37	11	67947635	67947635	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:67947635G>A	uc001onm.1	-	3	597	c.341C>T	c.(340-342)tCa>tTa	p.S114L	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.S114L|SUV420H1_uc010rqa.1_Intron	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						gtcagattttgaaaaatgcct	0.333000														8			5		0	0	0.001984	0	0
MPP6	51678	broad.mit.edu	37	7	24703288	24703288	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:24703288C>T	uc003swx.3	+	6	1030	c.731C>T	c.(730-732)tCc>tTc	p.S244F	MPP6_uc003swy.3_Missense_Mutation_p.S244F	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	244	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTGAAGTTTTCCAAAGGAGAG	0.338000														57			17		0	0	0.004007	0	0
WDR24	84219	broad.mit.edu	37	16	737699	737699	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:737699C>T	uc002ciz.1	-	1	1282	c.522G>A	c.(520-522)cgG>cgA	p.R174R		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	236										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TGAAGTAGTCCCGGATACTGA	0.637000														21			10		0	0	0.006214	0	0
FER1L6	654463	broad.mit.edu	37	8	125058037	125058037	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:125058037G>A	uc003yqw.3	+	20	2825	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	873	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCCGACCTGGAACCAGATGC	0.502000														234			65		0	0	0.003610	0	0
ODF3	113746	broad.mit.edu	37	11	198517	198517	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:198517G>A	uc001lob.3	+	4	760	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	ODF3_uc010qvk.2_Missense_Mutation_p.A156T|ODF3_uc001loc.3_3'UTR	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	156					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGTCGGCAAGGCCTCCCAGCC	0.642000														40			16		0	0	0.003163	0	0
FGB	2244	broad.mit.edu	37	4	155486961	155486961	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:155486961G>A	uc003ioa.4	+	2	154	c.115_splice	c.e2-1	p.G39_splice	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Splice_Site_p.G39_splice	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	39			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCCTTGTAGGGTTTCTTCAGT	0.473000														43			9		0	0	0.008291	0	0
NKTR	4820	broad.mit.edu	37	3	42680879	42680879	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:42680879C>T	uc003clo.3	+	12	3830	c.3683C>T	c.(3682-3684)cCc>cTc	p.P1228L	NKTR_uc003clm.1_Missense_Mutation_p.P975L|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.P975L|NKTR_uc003clq.1_Missense_Mutation_p.P1118L|NKTR_uc003clr.1_Missense_Mutation_p.P975L|NKTR_uc003cls.3_Missense_Mutation_p.P928L	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	1228					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAATGGAAGCCCCTGCAAGGT	0.527000														66			18		0	0	0.008871	0	0
TET1	80312	broad.mit.edu	37	10	70332292	70332292	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:70332292C>T	uc001jok.4	+	1	702	c.197C>T	c.(196-198)cCa>cTa	p.P66L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	66					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAACCTAAACCACCCGTGCCA	0.428000														36			33		0	0	0.003271	0	0
TSFM	10102	broad.mit.edu	37	12	58190272	58190272	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:58190272C>T	uc001sqi.3	+	5	941	c.884C>T	c.(883-885)aCc>aTc	p.T295I	TSFM_uc021qzq.1_Intron|TSFM_uc001sqh.3_Missense_Mutation_p.T316I|TSFM_uc010ssf.2_3'UTR|TSFM_uc010sse.2_Missense_Mutation_p.T255I	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	295					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCCTCCATTACCTTGGGGCAG	0.562000														11			4		0	0	0.000602	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140762923	140762923	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:140762923C>T	uc003lka.2	+	0	457	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.P153S	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	153	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCGGTTTCCGTTAAGCGA	0.473000														35			20		0	0	0.007413	0	0
OR13C2	392376	broad.mit.edu	37	9	107367669	107367669	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr9:107367669G>A	uc011lvq.2	-	0	240	c.240C>T	c.(238-240)tcC>tcT	p.S80S		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCACTAGCGTGGAGGGAATAG	0.512000														23			7		0	0	0.006122	0	0
ZNF514	84874	broad.mit.edu	37	2	95815791	95815791	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:95815791G>A	uc002sud.1	-	4	1029	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	ZNF514_uc002sue.1_Missense_Mutation_p.L147F	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCTCTGCTAAGGGTGGTGGCA	0.428000														79			29		0	0	0.008361	0	0
SP140	11262	broad.mit.edu	37	2	231155263	231155263	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:231155263G>A	uc002vql.3	+	18	1924	c.1809G>A	c.(1807-1809)aaG>aaA	p.K603K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.K489K|SP140_uc002vqm.3_Silent_p.K543K|SP140_uc010fxl.3_Silent_p.K576K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	603	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTTTACATAAGAAGAAATTGC	0.408000														46			20		0	0	0.001882	0	0
GPR161	23432	broad.mit.edu	37	1	168066237	168066237	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:168066237A>G	uc010pln.2	-	3	1202	c.668T>C	c.(667-669)gTc>gCc	p.V223A	GPR161_uc001gfb.3_Missense_Mutation_p.V71A|GPR161_uc001gfc.3_Missense_Mutation_p.V203A|GPR161_uc010pll.2_Missense_Mutation_p.V113A|GPR161_uc010plm.2_Missense_Mutation_p.V89A|GPR161_uc009wvo.3_Missense_Mutation_p.V220A|GPR161_uc001gfd.3_Missense_Mutation_p.V203A|GPR161_uc001gfe.1_Missense_Mutation_p.V203A	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	203					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CACCAGCATGACCAGAAAGGG	0.587000														54			3		0	0	0.004672	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685026	75685026	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:75685026G>A	uc010oqz.1	-	14	1365	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	SLC44A5_uc001dgt.2_Silent_p.F394F|SLC44A5_uc001dgs.2_Silent_p.F352F|SLC44A5_uc001dgr.2_Silent_p.F352F|SLC44A5_uc001dgu.3_Silent_p.F394F|SLC44A5_uc010ora.2_Silent_p.F388F|SLC44A5_uc010orb.2_Silent_p.F264F	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	394						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATGTCGCCAAGAAACTGAATA	0.383000														29			11		0	0	0.008291	0	0
ALG9	79796	broad.mit.edu	37	11	111707007	111707007	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:111707007G>A	uc010rwn.2	-	11	1423	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*	ALG9_uc001ply.3_Nonsense_Mutation_p.Q317*|ALG9_uc001plz.3_Nonsense_Mutation_p.Q324*|ALG9_uc021qql.1_Nonsense_Mutation_p.Q317*|ALG9_uc021qqm.1_Nonsense_Mutation_p.Q324*|ALG9_uc010rwo.2_Nonsense_Mutation_p.Q316*	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	488					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GGAATGAACTGAAGCTGCCAA	0.418000														28			13		0	0	0.001855	0	0
SDS	10993	broad.mit.edu	37	12	113836602	113836602	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:113836602G>A	uc001tvg.3	-	3	365	c.243C>T	c.(241-243)gtC>gtT	p.V81V	SDS_uc001tvh.1_Silent_p.V81V	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	81					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	p.G80G(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGGTGGCGGGGACGCCGAGTT	0.662000														14			8		0	0	0.003080	0	0
RP1	6101	broad.mit.edu	37	8	55538757	55538757	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:55538757G>A	uc003xsd.1	+	3	2463	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	772					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGTTCAAGGACTTTTAACC	0.294000														43			19		0	0	0.007413	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508103	37508103	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:37508103G>A	uc021ppc.1	+	33	3394	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1099K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1155						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E1098K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTGAAAGAGGAATCATTAAC	0.338000														103			52		0	0	0.003610	0	0
VARS	7407	broad.mit.edu	37	6	31760655	31760655	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:31760655G>A	uc003nxe.3	-	3	963	c.540C>T	c.(538-540)gcC>gcT	p.A180A	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	180	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGATCCGGCGGGCAGGTGGGT	0.542000														164			42		0	0	0.003214	0	0
FGF12	2257	broad.mit.edu	37	3	192125997	192125997	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:192125997C>T	uc003fsx.3	-	0	842	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	FGF12_uc003fsy.3_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	6					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AAGGAGCTGGCTATCGCCGCA	0.716000														18			8		0	0	0.006214	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962730	94962730	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:94962730C>T	uc001ydj.3	-	3	1681	c.885G>A	c.(883-885)tgG>tgA	p.W295*		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	295					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTAATGTTTTCCATCTGGAGA	0.478000														77			34		0	0	0.002445	0	0
FSHR	2492	broad.mit.edu	37	2	49190690	49190690	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:49190690G>A	uc002rww.3	-	9	1380	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y	FSHR_uc010fbn.3_Missense_Mutation_p.H398Y|FSHR_uc002rwx.3_Missense_Mutation_p.H362Y	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	424					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTCTTGGTATGGATATCAACT	0.478000									Gonadal Dysgenesis, 46 XX					52			11		0	0	0.000978	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489532	133489532	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:133489532G>A	uc002ttp.3	-	16	5595	c.5221C>T	c.(5221-5223)Cag>Tag	p.Q1741*	NCKAP5_uc002ttq.3_Nonsense_Mutation_p.Q422*	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1741							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGTCTGGCTGGCATAGGTAG	0.552000														37			25		0	0	0.003330	0	0
BRCA2	675	broad.mit.edu	37	13	32950923	32950923	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr13:32950923C>T	uc001uub.1	+	20	8976	c.8749C>T	c.(8749-8751)Ctt>Ttt	p.L2917F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2917					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCCAGCTTACCTTGAGGTGAG	0.438000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				15			13		0	0	0.001368	0	0
PITPNM3	83394	broad.mit.edu	37	17	6406856	6406856	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:6406856C>T	uc002gdd.4	-	3	416	c.265G>A	c.(265-267)Gag>Aag	p.E89K	PITPNM3_uc010cln.3_Missense_Mutation_p.E53K	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	89					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CGCTGCTTCTCCTGGAGGATG	0.557000														46			8		0	0	0.003080	0	0
CYTIP	9595	broad.mit.edu	37	2	158272504	158272504	+	Missense_Mutation	SNP	C	T	T	rs140145189	byFrequency	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:158272504C>T	uc002tzj.1	-	7	837	c.765G>A	c.(763-765)atG>atA	p.M255I	CYTIP_uc010zcl.1_Missense_Mutation_p.M149I	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	255	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTTCACTGTCCATCGTCATGG	0.567000														51			17		0	0	0.007413	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														39			3		0	0	0.004672	0	0
ABCA10	10349	broad.mit.edu	37	17	67148207	67148207	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:67148207G>A	uc010dfa.1	-	36	5253	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Silent_p.F450F|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1458					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGCCTGTGGGAAAAGCTTCA	0.378000														81			25		0	0	0.005443	0	0
ZBBX	79740	broad.mit.edu	37	3	166960418	166960418	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:166960418C>T	uc011bpc.2	-	20	2605	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K	ZBBX_uc003feq.3_Silent_p.K688K|ZBBX_uc003fep.3_Silent_p.K717K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	717						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGCTGTAAAGCTTTTCTGAAG	0.353000														30			10		0	0	0.006214	0	0
DOK7	285489	broad.mit.edu	37	4	3478206	3478206	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:3478206C>T	uc003ghd.3	+	3	539	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	DOK7_uc003ghe.3_Missense_Mutation_p.L157F	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	157	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCTGTCTGACCTCCGGCGCTA	0.637000														70			23		0	0	0.002299	0	0
NBPF1	55672	broad.mit.edu	37	1	16902870	16902870	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:16902870C>T	uc009vos.1	-	18	2899	c.2011G>A	c.(2011-2013)Gcc>Acc	p.A671T	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.A129T|NBPF1_uc010oce.1_Missense_Mutation_p.A400T	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	671						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTGAGGAGGGCCTGGAGATGC	0.557000														546			51		0	0	0.003610	0	0
KCNB1	3745	broad.mit.edu	37	20	47991189	47991189	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr20:47991189C>T	uc002xur.1	-	1	1074	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	KCNB1_uc002xus.1_Missense_Mutation_p.R303Q	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	303					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R303*(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGGAGAATTCGCATGATGCG	0.532000														55			31		0	0	0.002445	0	0
MUC16	94025	broad.mit.edu	37	19	9046738	9046738	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:9046738C>T	uc002mkp.3	-	4	35097	c.34893G>A	c.(34891-34893)gtG>gtA	p.V11631V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11633	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V11631V(1)|p.V7264V(1)		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						CCTGTGAGGTCACTACCCCTG	0.527000														75			39		0	0	0.005524	0	0
FRG2B	441581	broad.mit.edu	37	10	135438846	135438846	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:135438846G>A	uc010qvg.2	-	3	647	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	198						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTGGAGAATGGATCTGCTGTG	0.562000														20			20		0	0	0.003330	0	0
NETO1	81832	broad.mit.edu	37	18	70423306	70423306	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr18:70423306C>G	uc002lkw.3	-	7	1229	c.945G>C	c.(943-945)caG>caC	p.Q315H	NETO1_uc002lky.2_Missense_Mutation_p.Q315H	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	315	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACACACAGTTCTGGAGTCCAT	0.373000														54			16		0	0	0.002299	0	0
DCHS2	54798	broad.mit.edu	37	4	155312345	155312345	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:155312345C>T	uc003inw.2	-	0	105	c.105G>A	c.(103-105)gtG>gtA	p.V35V	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	35					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATTTATTTTCACATACACCT	0.328000														26			8		0	0	0.000978	0	0
ZNF35	7584	broad.mit.edu	37	3	44700266	44700266	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:44700266C>T	uc003cnq.3	+	3	632	c.411C>T	c.(409-411)atC>atT	p.I137I	ZNF35_uc003cnr.3_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	137	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AACCCCTCATCATATCAGAAA	0.393000														49			17		0	0	0.004990	0	0
WDR91	29062	broad.mit.edu	37	7	134891950	134891950	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:134891950G>A	uc003vsp.2	-	3	578	c.516C>T	c.(514-516)gtC>gtT	p.V172V	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_5'UTR	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	172										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGATCACAGGGACTGGTGCAC	0.463000														76			22		0	0	0.002299	0	0
ARID2	196528	broad.mit.edu	37	12	46244034	46244034	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:46244034C>T	uc001ros.1	+	14	2128	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	ARID2_uc001ror.3_Missense_Mutation_p.P710S|ARID2_uc009zkg.1_Missense_Mutation_p.P166S|ARID2_uc009zkh.1_Missense_Mutation_p.P337S|ARID2_uc001rou.1_Missense_Mutation_p.P44S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	710					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCTCCAATTCCTTGTGAAGT	0.438000			"""N, S, F"""		hepatocellular carcinoma									91			49		0	0	0.003610	0	0
AMZ1	155185	broad.mit.edu	37	7	2752501	2752501	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:2752501G>A	uc003smr.1	+	6	1847	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Missense_Mutation_p.E245K	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	496							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTGGGATGGGGAAGAGAGTTA	0.617000														39			33		0	0	0.002445	0	0
P2RY14	9934	broad.mit.edu	37	3	150931772	150931772	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:150931772G>A	uc003eyr.1	-	2	811	c.333C>T	c.(331-333)ttC>ttT	p.F111F	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Silent_p.F111F|P2RY14_uc021xfz.1_Silent_p.F111F	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	111						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGAGCCCAAAGAACACAATGC	0.463000														36			13		0	0	0.001855	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414006	22414006	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:22414006G>A	uc001yuf.3	+	0	545	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGTGATGTCCGACAGGTCATC	0.512000														150			21		0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9085586	9085586	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:9085586G>A	uc002mkp.3	-	0	6433	c.6229C>T	c.(6229-6231)Cat>Tat	p.H2077Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2077	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						ACCCCAGAATGGCCTGAGGAC	0.468000														119			60		0	0	0.003610	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18485507	18485507	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:18485507G>A	uc001mop.1	+	3	388	c.127_splice	c.e3-1	p.G43_splice	LDHAL6A_uc001moq.2_Splice_Site_p.G43_splice	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN	Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	43					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	ATGTTTTTCAGGGTTTGAGTG	0.383000														32			16		0	0	0.004990	0	0
SLX4	84464	broad.mit.edu	37	16	3644580	3644580	+	Silent	SNP	A	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:3644580A>C	uc002cvp.2	-	9	2661	c.2034T>G	c.(2032-2034)gtT>gtG	p.V678V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	678					DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CAAAGTCAGCAACCAGCAGCC	0.587000								Direct reversal of damage						35			10		0	0	0.008291	0	0
PTPN14	5784	broad.mit.edu	37	1	214556992	214556993	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:214556992_214556993GG>AA	uc001hkk.2	-	12	2858_2859	c.2205_2206CC>TT	c.(2203-2208)gcccag>gcTTag	p.Q736*	PTPN14_uc021piy.1_Nonsense_Mutation_p.Q500*|PTPN14_uc010pty.2_Nonsense_Mutation_p.Q637*	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	736					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCCTGCAGCTGGGCACTGTACT	0.634000														91			12		0	0	0.004672	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431950	140431951	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:140431950_140431951GG>AA	uc003lik.1	+	0	972_973	c.895_896GG>AA	c.(895-897)gga>AAa	p.G299K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	299	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAAAATGGAGAAGTTCGA	0.465000														54			21		0	0	0.004672	0	0
COL4A3	1285	broad.mit.edu	37	2	228128587	228128587	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:228128587G>A	uc002vom.2	+	20	1404	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	414	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.M414I(3)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGATGCCATGGGGACTCCTG	0.602000														37			15		0	0	0.002450	0	0
OR7C2	26658	broad.mit.edu	37	19	15053193	15053193	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:15053193G>A	uc010xoc.2	+	0	893	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GACATGAAGGGGTCACTGGGG	0.542000														71			18		0	0	0.004990	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460402	107460402	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:107460402C>T	uc002tdq.3	-	1	151	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R11Q|ST6GAL2_uc002tds.3_Missense_Mutation_p.R11Q	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	11					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R11Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAGCATTCGTTGTCTCCA	0.507000														49			20		0	0	0.007413	0	0
NID2	22795	broad.mit.edu	37	14	52526933	52526933	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:52526933C>T	uc001wzo.3	-	2	910	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	NID2_uc010tqs.2_Missense_Mutation_p.G226S|NID2_uc010tqt.1_Missense_Mutation_p.G226S|NID2_uc001wzp.3_Missense_Mutation_p.G226S	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	226	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGCAGAAGCCCACCCGAGCT	0.502000														43			12		0	0	0.001368	0	0
CLP1	10978	broad.mit.edu	37	11	57428556	57428556	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:57428556G>A	uc001nkw.3	+	2	1065	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	CLP1_uc010rjw.2_Missense_Mutation_p.R245Q|CLP1_uc009yml.3_Missense_Mutation_p.R309Q	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	309					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TATGGATTCCGAGGCTGTTTC	0.502000														134			34		0	0	0.002445	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517593	173517593	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:173517593C>T	uc001giz.2	-	11	1819	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	SLC9C2_uc009wwe.2_Missense_Mutation_p.E24K|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	466					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAAATTTTTTCTGTTTTAAAT	0.348000														31			34		0	0	0.002836	0	0
MYH13	8735	broad.mit.edu	37	17	10212703	10212703	+	Missense_Mutation	SNP	C	T	T	rs140856441	by1000genomes	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:10212703C>T	uc002gmk.1	-	34	5107	c.5017G>A	c.(5017-5019)Gag>Aag	p.E1673K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1673					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCAGCTGCTCCTTGAGGTCC	0.657000														14			11		0	0	0.008291	0	0
OR7D2	162998	broad.mit.edu	37	19	9296742	9296742	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:9296742G>A	uc002mkz.1	+	0	473	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	95					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCTCCTACATGGACTGCCTCA	0.517000														104			30		0	0	0.002836	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405813	20405813	+	RNA	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:20405813G>A	uc002gxb.3	-	4		c.1223C>T								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		CCTGAGAAAAGAAAGGTGGAA	0.502000														38			10		0	0	0.001368	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502954	140502954	+	Silent	SNP	C	T	T	rs148427211		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:140502954C>T	uc003lip.1	+	0	1374	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.F458F(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.627000														94			36		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61835104	61835104	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:61835104A>T	uc001jky.3	-	36	5873	c.5535T>A	c.(5533-5535)ttT>ttA	p.F1845L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1845	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGATTTTGTAAATGAATTAG	0.403000														63			42		0	0	0.002222	0	0
TELO2	9894	broad.mit.edu	37	16	1551436	1551436	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:1551436C>T	uc002cly.3	+	9	1588	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	433						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGAGGATGAACTGAGCCTCGA	0.726000														21			11		0	0	0.008291	0	0
IQCF1	132141	broad.mit.edu	37	3	51928965	51928965	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:51928965A>T	uc003dbv.3	-	3	657	c.559T>A	c.(559-561)Ttg>Atg	p.L187M	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	187										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGTCCAGCAAGATCTCCAGC	0.527000														69			39		0	0	0.004289	0	0
FCGBP	8857	broad.mit.edu	37	19	40411698	40411698	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:40411698C>T	uc002omp.4	-	6	3938	c.3930G>A	c.(3928-3930)gtG>gtA	p.V1310V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1310	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCGTGATCACCCTGGTCA	0.652000														70			37		0	0	0.003610	0	0
ALOXE3	59344	broad.mit.edu	37	17	8000072	8000072	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:8000072C>T	uc002gka.3	-	14	2508	c.2477G>A	c.(2476-2478)cGg>cAg	p.R826Q	ALOXE3_uc010cnr.3_Missense_Mutation_p.R670Q|ALOXE3_uc010vuo.2_Missense_Mutation_p.R802Q	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	670					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCGATGCTCCGCCTCGGGGC	0.632000														72			26		0	0	0.007291	0	0
LTBP2	4053	broad.mit.edu	37	14	74968203	74968203	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:74968203C>T	uc001xqa.3	-	34	5648	c.5261G>A	c.(5260-5262)gGc>gAc	p.G1754D		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1754	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACAGGTGTAGCCCTCCCGCAC	0.632000											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			31		0	0	0.002096	0	0
VPRBP	9730	broad.mit.edu	37	3	51440680	51440680	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:51440680G>A	uc003dbe.2	-	22	4388	c.4203C>T	c.(4201-4203)ttC>ttT	p.F1401F	VPRBP_uc021wys.1_Silent_p.F1400F|VPRBP_uc003dbf.1_Silent_p.F730F	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	1454	Asp/Glu-rich (acidic).				interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CAGAGGGAGAGAAGTCATTGT	0.537000														17			9		0	0	0.004482	0	0
MYH15	22989	broad.mit.edu	37	3	108183656	108183656	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:108183656C>T	uc003dxa.1	-	15	1677	c.1620G>A	c.(1618-1620)atG>atA	p.M540I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	540	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.M540I(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAGGATGCCCATTGGCTGTT	0.423000														52			25		0	0	0.003330	0	0
FUT9	10690	broad.mit.edu	37	6	96651676	96651676	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:96651676C>T	uc003pop.4	+	2	986	c.645C>T	c.(643-645)atC>atT	p.I215I	FUT9_uc021zcw.1_Silent_p.I215I	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	215					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GCATTGAAATCCATACCTACG	0.373000														19			14		0	0	0.002450	0	0
DEFB121	245934	broad.mit.edu	37	20	29992835	29992835	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr20:29992835C>T	uc002wvv.2	-	1	226	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	DEFB121_uc021wbq.1_Missense_Mutation_p.E26K	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Homo sapiens defensin, beta 121 (DEFB121), transcript variant 1, mRNA.	38					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGTATACTTCACTTTCTTTA	0.378000														29			15		0	0	0.004007	0	0
PMCH	5367	broad.mit.edu	37	12	102591416	102591416	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:102591416C>T	uc001tjl.3	-	0	199	c.133G>A	c.(133-135)Ggg>Agg	p.G45R		NM_002674	NP_002665	P20382	MCH_HUMAN	Homo sapiens pro-melanin-concentrating hormone (PMCH), mRNA.	45					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						AAGCCTTTCCCCAACCTGAAT	0.348000														35			11		0	0	0.008291	0	0
CDH10	1008	broad.mit.edu	37	5	24537654	24537654	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:24537654C>T	uc003jgr.2	-	2	867	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGGCCTTTTCCTCCCTATCA	0.383000										HNSCC(23;0.051)				71			30		0	0	0.008361	0	0
IFT172	26160	broad.mit.edu	37	2	27706224	27706224	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:27706224G>A	uc002rku.3	-	6	553	c.502C>T	c.(502-504)Ctc>Ttc	p.L168F	IFT172_uc002rkv.3_Missense_Mutation_p.L168F|IFT172_uc010yls.2_Missense_Mutation_p.L147F|IFT172_uc010ezc.3_Missense_Mutation_p.L168F	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	168					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGACCAGAGAGAATTCCTTTC	0.418000														56			16		0	0	0.006122	0	0
INTS4L1	285905	broad.mit.edu	37	7	64639749	64639749	+	RNA	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:64639749C>T	uc003ttw.3	+	4		c.632C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		GCCTTGATTTCCTAGTTGACA	0.443000														18			4		0	0	0.001168	0	0
RNF111	54778	broad.mit.edu	37	15	59381920	59381920	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:59381920G>C	uc002afv.3	+	10	2884	c.2605G>C	c.(2605-2607)Gga>Cga	p.G869R	RNF111_uc002afs.3_Missense_Mutation_p.G869R|RNF111_uc002aft.3_Missense_Mutation_p.G878R|RNF111_uc002afu.3_Missense_Mutation_p.G868R|RNF111_uc002afw.3_Missense_Mutation_p.G878R|RNF111_uc002afx.3_Missense_Mutation_p.G395R|RNF111_uc002afy.3_Missense_Mutation_p.G20R	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	869					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGGATTGGATGGAACATCATT	0.343000														193			73		0	0	0.003610	0	0
PRSS35	167681	broad.mit.edu	37	6	84234103	84234103	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:84234103G>A	uc003pjz.3	+	1	1183	c.943G>A	c.(943-945)Gat>Aat	p.D315N	PRSS35_uc010kbm.3_Missense_Mutation_p.D315N|PRSS35_uc021zce.1_Missense_Mutation_p.D315N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	315	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATTTGATAACGATAGGGCTGA	0.473000														42			18		0	0	0.006122	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000														42			3		0	0	0.004672	0	0
CNTN1	1272	broad.mit.edu	37	12	41410719	41410719	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:41410719G>A	uc001rmm.1	+	19	2532	c.2419_splice	c.e19+1	p.A807_splice	CNTN1_uc001rmn.1_Splice_Site_p.A796_splice	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	807					Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCACAAGACGGTAGGTGAAAG	0.423000														33			7		0	0	0.001984	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786472	121786472	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:121786472G>A	uc003ksw.1	+	9	2136	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N	SNCAIP_uc011cwl.1_Missense_Mutation_p.D202N|SNCAIP_uc003ksy.1_Missense_Mutation_p.D278N|SNCAIP_uc003ksx.1_Missense_Mutation_p.D691N|SNCAIP_uc003ksz.1_Missense_Mutation_p.D278N|SNCAIP_uc010jcu.2_Missense_Mutation_p.D240N|SNCAIP_uc011cwm.1_Missense_Mutation_p.D278N|SNCAIP_uc003kta.1_Missense_Mutation_p.D276N|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.D338N|SNCAIP_uc010jcx.1_Missense_Mutation_p.D584N|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.D160N	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	644					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGAATTCCAGGATGCTCAGGC	0.438000														35			14		0	0	0.003163	0	0
WDFY3	23001	broad.mit.edu	37	4	85695995	85695995	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:85695995G>A	uc003hpd.3	-	28	5140	c.4732C>T	c.(4732-4734)Cct>Tct	p.P1578S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1578						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCTGCTAGGAAAACCTTGC	0.378000														65			28		0	0	0.005443	0	0
MRC2	9902	broad.mit.edu	37	17	60769493	60769493	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:60769493C>T	uc002jad.3	+	28	4615	c.4213C>T	c.(4213-4215)Cca>Tca	p.P1405S	MRC2_uc002jae.3_Missense_Mutation_p.P476S|MRC2_uc002jaf.3_Missense_Mutation_p.P271S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1405					endocytosis	integral to membrane	receptor activity|sugar binding	p.P1405Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CAGCTTCTCCCCATCAGGTGA	0.547000														46			20		0	0	0.002780	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700961	94700961	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:94700961G>A	uc001ycs.1	+	6	840	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	229						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.R229*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TATGAAGTTCGATCTTGTATG	0.388000														34			9		0	0	0.000978	0	0
C1orf27	54953	broad.mit.edu	37	1	186375259	186375259	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:186375259C>T	uc021pgj.1	+	10	1064	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.F348F|C1orf27_uc021pgh.1_Silent_p.F325F|C1orf27_uc021pgi.1_Silent_p.F316F|C1orf27_uc021pgk.1_Missense_Mutation_p.P326S|C1orf27_uc021pgl.1_Missense_Mutation_p.P317S	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	349						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						AGTCTTTGTTCCCCTTCCTGG	0.373000														61			74		0	0	0.003610	0	0
GLRA3	8001	broad.mit.edu	37	4	175577931	175577931	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:175577931G>A	uc003ity.1	-	8	1582	c.1079C>T	c.(1078-1080)gCt>gTt	p.A360V	GLRA3_uc003itz.1_Intron	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	360					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CAGTGCAAAAGCTTCTGTCTG	0.343000														11			12		0	0	0.004007	0	0
KIF20B	9585	broad.mit.edu	37	10	91497679	91497679	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr10:91497679C>T	uc001kgs.1	+	19	3153	c.3081C>T	c.(3079-3081)gaC>gaT	p.D1027D	KIF20B_uc001kgr.1_Silent_p.D987D|KIF20B_uc001kgt.1_Silent_p.D238D|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1027					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CACAGTTAGACCTTTTAGGTA	0.338000														65			29		0	0	0.006320	0	0
FAM171B	165215	broad.mit.edu	37	2	187626884	187626884	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:187626884C>T	uc002ups.3	+	7	1927	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	FAM171B_uc002upr.1_Silent_p.I572I|FAM171B_uc002upt.3_Silent_p.I74I	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	605						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGAGGATATCATACTTGAAG	0.478000														64			32		0	0	0.001786	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873521	20873521	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:20873521A>C	uc002dhz.3	-	1	481	c.340T>G	c.(340-342)Ttt>Gtt	p.F114V	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	114	DCUN1.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm		p.R113C(1)		NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TCATTGCAAAAGCGCTCCATG	0.502000														78			28		0	0	0.005443	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19363171	19363171	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:19363171C>T	uc011kyn.2	-	3	1239	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	CSGALNACT1_uc011kyo.2_Missense_Mutation_p.A59T|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.A59T|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	59					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGAAGGACGGCCTGGTACCCC	0.622000														39			6		0	0	0.003080	0	0
ADCY3	109	broad.mit.edu	37	2	25057785	25057785	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:25057785G>A	uc010ykm.2	-	8	1882	c.1683C>T	c.(1681-1683)ccC>ccT	p.P561P	ADCY3_uc002rfr.4_Silent_p.P194P|ADCY3_uc002rfs.4_Silent_p.P561P	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	561					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGCGTGGGTTGGGGAATGAGG	0.642000														22			11		0	0	0.001368	0	0
EDN3	1908	broad.mit.edu	37	20	57896107	57896107	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr20:57896107G>A	uc002yap.3	+	2	770	c.401G>A	c.(400-402)gGa>gAa	p.G134E	EDN3_uc002yao.1_Missense_Mutation_p.G134E|EDN3_uc002yaq.3_Missense_Mutation_p.G134E|EDN3_uc002yar.3_Missense_Mutation_p.G134E|EDN3_uc002yas.3_Missense_Mutation_p.G134E	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	134					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AACTACAGAGGAAGCTTCCGG	0.602000														54			20		0	0	0.008871	0	0
MET	4233	broad.mit.edu	37	7	116411677	116411677	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:116411677C>T	uc003vij.3	+	12	3043	c.2856C>T	c.(2854-2856)ttC>ttT	p.F952F	MET_uc010lkh.3_Silent_p.F970F|MET_uc011knj.2_Silent_p.F522F	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	952					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGGGTTTTTCCTGTGGCTGA	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					110			24		0	0	0.007291	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659614	63659614	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:63659614G>A	uc010lyq.1	+	3	529	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	133						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TTACACGTACGTCTCTGTCAC	0.498000														64			15		0	0	0.004007	0	0
HEATR8	374977	broad.mit.edu	37	1	55148375	55148375	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:55148375T>G	uc010ooe.1	+	13	2752	c.2428T>G	c.(2428-2430)Tgt>Ggt	p.C810G	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.C378G|HEATR8_uc010ood.1_Missense_Mutation_p.C328G|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.C810G|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.C12G	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	810						integral to membrane	binding	p.C810S(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAAGCCCAGCTGTGATGTCCG	0.612000														55			20		0	0	0.007413	0	0
SLFN11	91607	broad.mit.edu	37	17	33690245	33690245	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:33690245G>A	uc002hjg.4	-	1	829	c.582C>T	c.(580-582)ttC>ttT	p.F194F	SLFN11_uc010ctr.3_Silent_p.F194F|SLFN11_uc010ctp.3_Silent_p.F194F|SLFN11_uc010ctq.3_Silent_p.F194F|SLFN11_uc002hjh.4_Silent_p.F194F	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	194						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTCTTTTTGGAAAATTAGGT	0.403000														103			42		0	0	0.002222	0	0
NUP160	23279	broad.mit.edu	37	11	47819553	47819553	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:47819553G>A	uc001ngm.3	-	25	3245	c.3160C>T	c.(3160-3162)Ccc>Tcc	p.P1054S	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.P1054S	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	1054					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTCACATAGGGAAACTCTACA	0.398000														43			21		0	0	0.002299	0	0
MED23	9439	broad.mit.edu	37	6	131948547	131948547	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:131948547C>T	uc003qcs.1	-	2	322	c.148G>A	c.(148-150)Ggt>Agt	p.G50S	ENPP3_uc010kfn.1_5'Flank|ENPP3_uc003qcu.4_5'Flank|MED23_uc003qcq.3_Missense_Mutation_p.G50S|MED23_uc003qct.1_Missense_Mutation_p.G50S|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	50					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGAGAAAGACCACCCCAAAAC	0.318000														56			32		0	0	0.004878	0	0
DNAH5	1767	broad.mit.edu	37	5	13931251	13931251	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:13931251C>T	uc003jfd.2	-	1	202	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	54	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E54K(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)					TCCTCCACTTCGGTTTTGTTC	0.488000									Kartagener syndrome					60			17		0	0	0.006122	0	0
OR8J1	219477	broad.mit.edu	37	11	56127730	56127730	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:56127730C>T	uc010rjh.2	+	0	40	c.8C>T	c.(7-9)cCt>cTt	p.P3L		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GACATGGCTCCTGAAAATTTC	0.433000														64			20		0	0	0.008871	0	0
CSMD2	114784	broad.mit.edu	37	1	34285417	34285417	+	Silent	SNP	G	A	A	rs146766790		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:34285417G>A	uc001bxm.1	-	8	1398	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	CSMD2_uc001bxn.1_Silent_p.F367F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	367	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTTGCAGGTGAACTGGACGC	0.592000														33			13		0	0	0.002450	0	0
ASCC2	84164	broad.mit.edu	37	22	30221628	30221628	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr22:30221628C>T	uc003agr.3	-	2	367	c.223G>A	c.(223-225)Gat>Aat	p.D75N	ASCC2_uc011akr.2_Intron|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CAGAATTTATCGTGAGGCAAG	0.502000														70			34		0	0	0.002445	0	0
NAGA	4668	broad.mit.edu	37	22	42456971	42456971	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr22:42456971G>A	uc003bbw.4	-	7	1603	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	353					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCCAAGGGAGGAGTGGTAGCG	0.557000														63			20		0	0	0.002299	0	0
HGF	3082	broad.mit.edu	37	7	81388078	81388078	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:81388078G>A	uc003uhl.3	-	2	462	c.297C>T	c.(295-297)ttC>ttT	p.F99F	HGF_uc003uhm.3_Silent_p.F99F|HGF_uc003uhn.1_Silent_p.F99F|HGF_uc003uho.1_Silent_p.F99F|HGF_uc003uhp.3_Silent_p.F99F|HGF_uc022agw.1_Silent_p.F99F	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	99	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.W98C(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TATTGAAGGGGAACCAGAGGC	0.318000														79			58		0	0	0.003610	0	0
CHRM2	1129	broad.mit.edu	37	7	136700134	136700134	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:136700134G>A	uc003vtf.1	+	3	1145	c.522G>A	c.(520-522)ggG>ggA	p.G174G	CHRM2_uc003vtg.1_Silent_p.G174G|CHRM2_uc003vti.1_Silent_p.G174G|CHRM2_uc003vtm.1_Silent_p.G174G|CHRM2_uc003vtj.1_Silent_p.G174G|CHRM2_uc003vtk.1_Silent_p.G174G|CHRM2_uc003vtl.1_Silent_p.G174G|CHRM2_uc003vtn.1_Silent_p.G174G|CHRM2_uc003vto.1_Silent_p.G174G|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.G174G	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	174					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.D173E(1)|p.G174W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGGAGGATGGGGAGTGCTACA	0.488000														101			92		0	0	0.003610	0	0
CILP2	148113	broad.mit.edu	37	19	19655800	19655800	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:19655800G>A	uc002nmw.4	+	7	2549	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	CILP2_uc002nmv.4_Missense_Mutation_p.E816K	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	816						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTGGGCGGCGAGGAGCTGGA	0.746000														10			11		0	0	0.008291	0	0
MUC6	4588	broad.mit.edu	37	11	1025023	1025023	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:1025023G>A	uc001lsw.2	-	23	3097	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1016	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACCTGCTGCGCGTCTCGAAG	0.642000														16			13		0	0	0.001855	0	0
GNAI1	2770	broad.mit.edu	37	7	79764527	79764527	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:79764527G>C	uc003uhb.1	+	0	388	c.51G>C	c.(49-51)aaG>aaC	p.K17N	GNAI1_uc011kgt.1_5'Flank	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	17					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGCGGAGTAAGATGATCGACC	0.731000														38			4		0	0	0.000248	0	0
UNC13C	440279	broad.mit.edu	37	15	54919039	54919039	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:54919039G>A	uc021smr.1	+	30	6367	c.6367G>A	c.(6367-6369)Gaa>Aaa	p.E2123K	UNC13C_uc021sms.1_Missense_Mutation_p.E2125K|UNC13C_uc002acm.3_Missense_Mutation_p.E46K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2125	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2123E(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTCGGAAAGGAAAATCGACC	0.378000														41			13		0	0	0.002450	0	0
IL13RA2	3598	broad.mit.edu	37	X	114245315	114245315	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chrX:114245315G>A	uc004epx.3	-	5	723	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	IL13RA2_uc010nqd.1_Missense_Mutation_p.P200S|IL13RA2_uc022cdb.1_Missense_Mutation_p.P200S	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	200	Fibronectin type-III 2.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TCCAAATAGGGAAATCTGCAT	0.368000														23			24		0	0	0.002299	0	0
CRHR2	1395	broad.mit.edu	37	7	30695560	30695560	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:30695560G>A	uc003tbn.3	-	8	1145	c.900C>T	c.(898-900)tcC>tcT	p.S300S	CRHR2_uc010kvw.2_Silent_p.S300S|CRHR2_uc010kvx.2_Silent_p.S299S|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Silent_p.S136S|CRHR2_uc003tbo.3_Silent_p.S286S|CRHR2_uc003tbp.3_Silent_p.S327S	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	300					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGATTGTCTCGGATGTGGTGG	0.562000														91			79		0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71503529	71503529	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:71503529G>A	uc011caw.1	+	7	838	c.557G>A	c.(556-558)gGa>gAa	p.G186E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	186					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCAGGTTATGGACGCCCACCA	0.453000														120			46		0	0	0.003610	0	0
C11orf85	283129	broad.mit.edu	37	11	64707209	64707209	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:64707209C>T	uc001ocb.1	-	8	641	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Missense_Mutation_p.R136Q	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA.	193								p.G192G(1)		breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TGGGACAATTCGCCCTGGCAG	0.532000														58			34		0	0	0.003271	0	0
DSCAML1	57453	broad.mit.edu	37	11	117314695	117314695	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:117314695G>A	uc001prh.1	-	20	3951	c.3949C>T	c.(3949-3951)Cgc>Tgc	p.R1317C		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1257	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTGACCGCGGTTTAGGTGG	0.627000														22			12		0	0	0.001855	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322648	4322648	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:4322648C>T	uc003ghu.3	+	7	2078	c.1903C>T	c.(1903-1905)Cac>Tac	p.H635Y	ZBTB49_uc003ghv.3_Missense_Mutation_p.H118Y|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Missense_Mutation_p.H213Y	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCCCTGTCCACCCAGTGGA	0.512000														31			13		0	0	0.001368	0	0
NAGLU	4669	broad.mit.edu	37	17	40695514	40695514	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:40695514T>A	uc002hzv.3	+	5	1830	c.1490T>A	c.(1489-1491)cTg>cAg	p.L497Q		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	497						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGGAGGCTACTGCTCCGGAGT	0.657000														13			3		0	0	0.000248	0	0
THBS2	7058	broad.mit.edu	37	6	169628377	169628377	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:169628377C>T	uc003qwt.3	-	16	2508	c.2260_splice	c.e16-1	p.D754_splice		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	754					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCAGTTGTCCTGGAAAACCA	0.488000														22			8		0	0	0.004482	0	0
NAV2	89797	broad.mit.edu	37	11	20104680	20104680	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:20104680C>T	uc010rdm.2	+	27	5982	c.5621C>T	c.(5620-5622)tCc>tTc	p.S1874F	NAV2_uc001mpp.3_Missense_Mutation_p.S1754F|NAV2_uc001mpr.4_Missense_Mutation_p.S1818F|NAV2_uc021qew.1_Missense_Mutation_p.S1821F|NAV2_uc009yhx.3_Missense_Mutation_p.S882F|NAV2_uc009yhz.3_Missense_Mutation_p.S463F|NAV2_uc001mpu.3_Missense_Mutation_p.S256F	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1877						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACAATGGGTCCACAGGTTCC	0.488000														60			31		0	0	0.002836	0	0
CNTN4	152330	broad.mit.edu	37	3	2787249	2787249	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:2787249C>T	uc003bpc.3	+	5	565	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.R76C|CNTN4_uc003bpd.1_Missense_Mutation_p.R76C	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	76	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.V76V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATGGATTTCCGCTACAGTGT	0.383000														91			27		0	0	0.007291	0	0
FDPS	2224	broad.mit.edu	37	1	155290374	155290374	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:155290374C>T	uc001fkc.2	+	10	1453	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	FDPS_uc021paw.1_Missense_Mutation_p.R346C|FDPS_uc001fkd.2_Missense_Mutation_p.R346C|FDPS_uc021pax.1_Missense_Mutation_p.R241C|FDPS_uc001fke.2_Missense_Mutation_p.R412C|RUSC1-AS1_uc001fkh.1_Intron|RUSC1-AS1_uc001fki.3_3'UTR|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	412					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	p.A411V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GGGGCTTGCGCGCAAAATCTA	0.498000														28			39		0	0	0.002222	0	0
COL4A1	1282	broad.mit.edu	37	13	110847436	110847436	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr13:110847436G>A	uc001vqw.4	-	21	1437	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	439	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGTCACCTGGAGGTCCGGGC	0.428000														22			21		0	0	0.002299	0	0
FAT4	79633	broad.mit.edu	37	4	126239235	126239235	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:126239235C>T	uc003ifj.4	+	0	1669	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	557	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCCCGGGACCAGGGAGTTCA	0.517000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			17		0	0	0.006122	0	0
SFRP4	6424	broad.mit.edu	37	7	37954014	37954014	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:37954014C>T	uc003tfo.4	-	1	873	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	163					Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGAGGCCTTTCCTGTACCATC	0.483000														46			41		0	0	0.003610	0	0
GRIA1	2890	broad.mit.edu	37	5	153144012	153144012	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:153144012C>T	uc011dcy.2	+	11	1899	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	GRIA1_uc003lva.4_Silent_p.I614I|GRIA1_uc003luy.4_Silent_p.I614I|GRIA1_uc003luz.4_Silent_p.I519I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.I534I|GRIA1_uc011dcx.2_Silent_p.I545I|GRIA1_uc011dcz.2_Silent_p.I624I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	614					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGGTCGCATCGTTGGTGGCG	0.572000														66			22		0	0	0.003954	0	0
UBE3D	90025	broad.mit.edu	37	6	83667048	83667048	+	Missense_Mutation	SNP	G	A	A	rs143403921	byFrequency	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:83667048G>A	uc003pjp.2	-	8	1240	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	UBE3D_uc011dyx.1_Non-coding_Transcript	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	378	HECT-like.					cytoplasm	ligase activity										GAATTCACACGGCGAAGGGAT	0.463000														10			3		0	0	0.000602	0	0
ZIC4	84107	broad.mit.edu	37	3	147108847	147108847	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:147108847G>A	uc011bno.2	-	3	1211	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.P222L|ZIC4_uc021xff.1_Missense_Mutation_p.P330L|ZIC4_uc003ewd.2_Missense_Mutation_p.P292L|ZIC4_uc021xfg.1_Missense_Mutation_p.P86L	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	292						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGGGCGGCGGCGAGCGCCC	0.672000														39			20		0	0	0.002299	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837275	40837275	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:40837275C>T	uc002iay.3	+	4	768	c.552C>T	c.(550-552)tcC>tcT	p.S184S	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	184					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATGCCATCTCCTACCGCTTCC	0.652000														43			19		0	0	0.001882	0	0
DDX60L	91351	broad.mit.edu	37	4	169354261	169354261	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:169354261A>T	uc021xuh.1	-	9	1410	c.1300T>A	c.(1300-1302)Tcc>Acc	p.S434T	DDX60L_uc003irq.4_Missense_Mutation_p.S434T|DDX60L_uc003irr.1_Missense_Mutation_p.S434T|DDX60L_uc003irs.1_Missense_Mutation_p.S161T	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	434							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTTCCAAGGAGATTTCTGAA	0.299000														13			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179640923	179640923	+	Missense_Mutation	SNP	G	A	A	rs146496197	byFrequency	TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:179640923G>A	uc021vsy.1	-	27	5893	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C	TTN_uc021vsz.1_Missense_Mutation_p.R1844C|TTN_uc021vta.1_Missense_Mutation_p.R1844C|TTN_uc021vtb.1_Missense_Mutation_p.R1844C|TTN_uc002unb.2_Missense_Mutation_p.R1890C|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1890	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1844C(3)|p.R1890C(2)		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)			CCATCATAGCGAACTCTGAAC	0.498000														200			70		0	0	0.003610	0	0
LIMK2	3985	broad.mit.edu	37	22	31664134	31664134	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr22:31664134C>T	uc003akh.3	+	10	1410	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	LIMK2_uc003aki.3_Missense_Mutation_p.P176L|LIMK2_uc003akj.3_Missense_Mutation_p.P401L|LIMK2_uc003akk.3_Missense_Mutation_p.P401L|LIMK2_uc011aln.2_Missense_Mutation_p.P339L	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	422	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGCAGGATCCGTTCCCCTGG	0.587000														87			30		0	0	0.003271	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134471739	134471740	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr9:134471739_134471740GG>AA	uc022bos.1	-	13	2289_2290	c.2130_2131CC>TT	c.(2128-2133)gtccgc>gtTTgc	p.R711C	RAPGEF1_uc022bot.1_Missense_Mutation_p.R693C|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.R868C|RAPGEF1_uc022bov.1_Missense_Mutation_p.R698C	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	693	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GATCCTCCGCGGACGTCCGGCC	0.545000														9			6		0	0	0.004672	0	0
TAS2R10	50839	broad.mit.edu	37	12	10977959	10977959	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr12:10977959G>A	uc001qyy.1	-	0	910	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	304					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GTGACTCTGAGATTTTTCCTT	0.418000														44			14		0	0	0.003163	0	0
ENAM	10117	broad.mit.edu	37	4	71510396	71510396	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:71510396G>A	uc011caw.1	+	8	3534	c.3253G>A	c.(3253-3255)Gat>Aat	p.D1085N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1085					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTTGATGGGGATTCAATTAC	0.428000														61			16		0	0	0.004007	0	0
DDX17	10521	broad.mit.edu	37	22	38884057	38884057	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr22:38884057T>C	uc003avy.4	-	11	1614	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.H504R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	425					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCCAATACGGTGCACATAATC	0.478000														66			41		0	0	0.008740	0	0
FGR	2268	broad.mit.edu	37	1	27942047	27942047	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:27942047C>T	uc001boj.3	-	6	1062	c.916G>A	c.(916-918)Gag>Aag	p.E306K	FGR_uc001boi.3_Missense_Mutation_p.E9K|FGR_uc001bok.3_Missense_Mutation_p.E306K|FGR_uc001bol.3_Missense_Mutation_p.E306K|FGR_uc001bom.3_Missense_Mutation_p.E306K	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	306	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTGCGCCTCCTCCAGGAAG	0.622000														42			6		0	0	0.001168	0	0
CABP4	57010	broad.mit.edu	37	11	67223069	67223069	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:67223069G>A	uc001olo.3	+	0	252	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	59					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGGCAGCTCTGGGGAGCAGAC	0.687000														17			8		0	0	0.003080	0	0
VPS39	23339	broad.mit.edu	37	15	42483350	42483350	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:42483350G>A	uc001zpd.3	-	4	404	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	VPS39_uc001zpc.3_Nonsense_Mutation_p.Q74*	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	85	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATCTTAAACTGGGAAACCACA	0.343000														47			26		0	0	0.008361	0	0
TTC29	83894	broad.mit.edu	37	4	147830395	147830395	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:147830395C>T	uc003ikx.4	-	5	511	c.261G>A	c.(259-261)agG>agA	p.R87R	TTC29_uc003ikw.4_Silent_p.R61R|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.R61R	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	61							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTAGGAGTTCCTATAACTGG	0.413000														11			3		0	0	0.004672	0	0
MOSPD3	64598	broad.mit.edu	37	7	100211216	100211217	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:100211216_100211217CC>TT	uc003uvq.3	+	3	600_601	c.398_399CC>TT	c.(397-399)tcc>tTT	p.S133F	MOSPD3_uc003uvr.3_Missense_Mutation_p.S133F|MOSPD3_uc003uvs.3_Missense_Mutation_p.S133F|MOSPD3_uc003uvt.3_Missense_Mutation_p.S123F	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	133	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GACATTACCTCCATTCTGAGAG	0.634000														83			14		0	0	0.004672	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159558	242159558	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:242159558C>T	uc001hzk.2	-	3	426	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 gamma (MAP1LC3C), mRNA.	117					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGCGTAGGTCATGTACACGA	0.552000														131			29		0	0	0.002096	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117722	117722	+	RNA	SNP	T	C	C			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chrGL000205.1:117722T>C	uc002kgk.4	+	0		c.1100T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGTGGGGAGATATTGGGCCTC	0.607000														18			6		0	0	0.001168	0	0
WIPI1	55062	broad.mit.edu	37	17	66440649	66440649	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:66440649G>A	uc010dey.3	-	3	506	c.415C>T	c.(415-417)Cct>Tct	p.P139S	WIPI1_uc010wqo.2_Missense_Mutation_p.P57S	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	139					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GGGTTTGCAGGAATATCCAGG	0.418000														47			26		0	0	0.007291	0	0
PLD5	200150	broad.mit.edu	37	1	242253348	242253348	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:242253348C>T	uc001hzn.2	-	10	1646	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	PLD5_uc021pll.1_Silent_p.Q381Q|PLD5_uc001hzl.4_Silent_p.Q411Q|PLD5_uc001hzm.4_Silent_p.Q265Q|PLD5_uc001hzo.2_Silent_p.Q381Q	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	473						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCACATCTGCCTGGTTGATAA	0.413000														134			28		0	0	0.004656	0	0
FLG	2312	broad.mit.edu	37	1	152276755	152276755	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:152276755C>T	uc001ezu.1	-	2	10643	c.10607G>A	c.(10606-10608)gGa>gAa	p.G3536E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3536	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACACTGGATCCCTGGTTCCT	0.577000									Ichthyosis					166			152		0	0	0.003610	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52891101	52891101	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:52891101G>A	uc001cty.2	-	28	5043	c.4790C>T	c.(4789-4791)tCg>tTg	p.S1597L	ZCCHC11_uc001ctx.2_Missense_Mutation_p.S1596L	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1596	Pro-rich.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATAAGGCCACGAAGCTGGGAC	0.488000														54			17		0	0	0.004007	0	0
abParts	0	broad.mit.edu	37	2	90121877	90121877	+	RNA	SNP	C	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:90121877C>A	uc010yts.2	+	28		c.3017C>A								Parts of antibodies, mostly variable regions.																		TCTCCATCTGCCATGTCTGCA	0.448000														146			50		6.3008e-33	7.20609e-33	0.003610	1	0
KDM1A	23028	broad.mit.edu	37	1	23384007	23384007	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:23384007C>T	uc001bgi.2	+	6	1110	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	KDM1A_uc001bgj.2_Missense_Mutation_p.R341C	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	321	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	p.F320C(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGCCACATTTCGCAAAGGAAA	0.413000														64			32		0	0	0.004289	0	0
TCERG1	10915	broad.mit.edu	37	5	145883447	145883447	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:145883447C>T	uc003lob.3	+	17	2648	c.2608C>T	c.(2608-2610)Cga>Tga	p.R870*	TCERG1_uc003loc.3_Nonsense_Mutation_p.R849*	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	870					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.R870Q(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAAGCCTTCGAGAACGAGA	0.418000														61			19		0	0	0.001523	0	0
KIF21B	23046	broad.mit.edu	37	1	200960261	200960261	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:200960261C>T	uc001gvs.2	-	17	2788	c.2471G>A	c.(2470-2472)cGc>cAc	p.R824H	KIF21B_uc009wzl.2_Missense_Mutation_p.R824H|KIF21B_uc001gvr.2_Missense_Mutation_p.R824H|KIF21B_uc010ppn.2_Missense_Mutation_p.R824H	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	824					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTGGCCAGGCGCCTCAGTGC	0.657000														49			12		0	0	0.000978	0	0
ANPEP	290	broad.mit.edu	37	15	90347724	90347724	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr15:90347724G>A	uc002bop.4	-	4	1314	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	341	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCACTCACCTGATTTTGGGAG	0.597000														74			31		0	0	0.002445	0	0
CAGE1	285782	broad.mit.edu	37	6	7379053	7379053	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:7379053T>A	uc003mxl.2	-	3	1015	c.484A>T	c.(484-486)Aag>Tag	p.K162*	CAGE1_uc021ylc.1_Nonsense_Mutation_p.K26*|CAGE1_uc003mxj.3_5'UTR|CAGE1_uc003mxk.2_Nonsense_Mutation_p.K162*	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	162										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTTTCTTCCTTAAATGAGTCT	0.378000														27			15		0	0	0.002450	0	0
KIAA0146	23514	broad.mit.edu	37	8	48353042	48353042	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:48353042C>T	uc003xqd.3	+	7	1097	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	KIAA0146_uc011lcz.2_Non-coding_Transcript|KIAA0146_uc011lda.2_Silent_p.T34T|KIAA0146_uc011ldb.2_Silent_p.T345T|KIAA0146_uc010lxs.3_5'UTR|KIAA0146_uc011ldc.2_Silent_p.T275T|KIAA0146_uc011ldd.2_Silent_p.T285T|KIAA0146_uc003xqe.3_5'UTR|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.T34T|KIAA0146_uc010lxt.3_Silent_p.T34T	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	345										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TTCTCTTCACCAAGGAGACTG	0.582000														110			31		0	0	0.004289	0	0
DEF8	54849	broad.mit.edu	37	16	90030674	90030674	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:90030674G>A	uc002fpn.2	+	10	1415	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	DEF8_uc002fpo.2_Missense_Mutation_p.E367K|DEF8_uc002fpp.2_Missense_Mutation_p.E357K|DEF8_uc021tmv.1_Missense_Mutation_p.E367K|DEF8_uc010vpq.2_Missense_Mutation_p.E307K|DEF8_uc010vpr.2_Missense_Mutation_p.E350K|DEF8_uc002fpq.2_Missense_Mutation_p.E125K	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	428					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CTCGCTCACCGAGATCCACAC	0.642000														9			10		0	0	0.006214	0	0
DNAH3	55567	broad.mit.edu	37	16	21049241	21049241	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:21049241G>A	uc010vbe.2	-	33	4792	c.4792C>T	c.(4792-4794)Cac>Tac	p.H1598Y		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1598	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGTCATAGTGATGCTGAGAG	0.542000														29			10		0	0	0.008291	0	0
TMEM104	54868	broad.mit.edu	37	17	72815924	72815924	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:72815924C>T	uc002jls.4	+	8	834	c.672C>T	c.(670-672)ttC>ttT	p.F224F	TMEM104_uc010wrf.1_Silent_p.F224F|TMEM104_uc010wrg.1_Silent_p.F237F|TMEM104_uc010dfx.3_Silent_p.F224F	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	224						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CGTTCACCTTCTTTGACGTCC	0.557000														67			21		0	0	0.002299	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187406	32187406	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr6:32187406C>T	uc003obb.3	-	7	1612	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.L491L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	491	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAAGTAGGTCCAGACAGGTGC	0.592000														335			96		0	0	0.003610	0	0
PARP8	79668	broad.mit.edu	37	5	50091235	50091235	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:50091235C>T	uc003jon.4	+	12	1594	c.1412C>T	c.(1411-1413)tCa>tTa	p.S471L	PARP8_uc011cpz.2_Missense_Mutation_p.S363L|PARP8_uc003joo.3_Missense_Mutation_p.S471L|PARP8_uc003jop.3_Missense_Mutation_p.S471L	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	471	Poly-Ser.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCTTCATCTTCATCTTCTCAG	0.398000														43			15		0	0	0.003163	0	0
GSDMC	56169	broad.mit.edu	37	8	130789639	130789639	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr8:130789639G>A	uc003ysr.3	-	1	1077	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	65						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTGGCTCCAGGATGTCATTGA	0.433000														46			12		0	0	0.000978	0	0
EEF1G	1937	broad.mit.edu	37	11	62327212	62327212	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:62327212G>A	uc001ntm.1	-	9	1399	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	EEF1G_uc010rlw.1_Missense_Mutation_p.S468F	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	418	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCTCCCAGGAAAAGTACTC	0.557000														17			14		0	0	0.001855	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159526	18159526	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:18159526C>T	uc021qek.1	+	0	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F	MRGPRX3_uc001mnu.3_Silent_p.F259F	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	259						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTCCATTTTCCTGTCCGCTC	0.493000														55			24		0	0	0.002780	0	0
LAMA1	284217	broad.mit.edu	37	18	6962005	6962005	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr18:6962005G>A	uc002knm.3	-	51	7485	c.7391C>T	c.(7390-7392)tCc>tTc	p.S2464F	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.S1940F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2464	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTTGATCTGGATATTTCCAG	0.393000														90			40		0	0	0.002522	0	0
FBXW12	285231	broad.mit.edu	37	3	48415089	48415089	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:48415089G>A	uc003csr.3	+	3	366	c.180G>A	c.(178-180)ctG>ctA	p.L60L	FBXW12_uc010hjv.3_Silent_p.L41L|FBXW12_uc003css.3_Silent_p.L60L|FBXW12_uc010hjw.3_Intron	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	60										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCAACACCTGGGCACACACA	0.473000														62			13		0	0	0.001855	0	0
OR4C15	81309	broad.mit.edu	37	11	55322305	55322305	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:55322305C>T	uc010rig.2	+	0	523	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGCCTATGATCGTTATGTGGC	0.507000										HNSCC(20;0.049)				103			35		0	0	0.003755	0	0
SELE	6401	broad.mit.edu	37	1	169698340	169698340	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:169698340G>A	uc001ggm.4	-	6	1234	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	359	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CACAAACTGGGATTTGCTGTG	0.438000														41			46		0	0	0.003610	0	0
EXPH5	23086	broad.mit.edu	37	11	108382300	108382300	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr11:108382300C>T	uc001pkk.3	-	5	4045	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K	EXPH5_uc010rvz.2_Missense_Mutation_p.E1156K|EXPH5_uc010rvy.2_Missense_Mutation_p.E1124K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1312					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTAGATTTTCACATGAAGGT	0.413000														37			20		0	0	0.001523	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131054747	131054747	+	Silent	SNP	A	G	G			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr5:131054747A>G	uc003kvs.1	-	4	604	c.462T>C	c.(460-462)ccT>ccC	p.P154P	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.P154P|RAPGEF6_uc010jdm.1_Silent_p.P109P|RAPGEF6_uc003kvu.3_Silent_p.P154P	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	1324					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGAGCTGTGGAGGGGAACTAT	0.383000														76			28		0	0	0.008361	0	0
OR1A1	8383	broad.mit.edu	37	17	3119691	3119691	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:3119691C>T	uc010vrc.2	+	0	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GCACGTATTTCCGCCCTTTGA	0.478000														93			28		0	0	0.004656	0	0
MYH2	4620	broad.mit.edu	37	17	10427143	10427143	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr17:10427143C>T	uc010coi.3	-	35	5362	c.5234G>A	c.(5233-5235)gGa>gAa	p.G1745E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G1745E|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1745					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						CTCCATCTCTCCTTGCATTTG	0.433000														61			13		0	0	0.001855	0	0
CELF5	60680	broad.mit.edu	37	19	3224881	3224881	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr19:3224881C>T	uc002lxm.3	+	0	181	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CELF5_uc010dtj.2_Silent_p.F48F|CELF5_uc002lxl.2_Silent_p.F48F|CELF5_uc010xhg.2_5'Flank	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	48	RRM 1.				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TCAAACTCTTCGTGGGCCAGA	0.687000														16			7		0	0	0.003080	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367362	234367362	+	Silent	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr1:234367362G>A	uc001hvy.1	+	2	628	c.483G>A	c.(481-483)agG>agA	p.R161R	SLC35F3_uc001hwa.1_Silent_p.R92R	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	92					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGACCTTCAGGAAGTTCGACG	0.602000														215			42		0	0	0.003610	0	0
LOC440905	440905	broad.mit.edu	37	2	130792745	130792745	+	RNA	SNP	G	A	A			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr2:130792745G>A	uc002tpz.2	-	7		c.2584C>T								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		ACAGCTAGTGGGAGATTGACG	0.488000														24			12		0	0	0.000978	0	0
C16orf11	146325	broad.mit.edu	37	16	615119	615119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr16:615119C>T	uc002chk.3	+	2	1807	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	NHLRC4_uc002chl.3_5'Flank|PIGQ_uc010bqw.3_5'Flank|NHLRC4_uc021szs.1_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	510										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TGCAGCGCCCCAACCCTTCTC	0.721000														20			11		0	0	0.001855	0	0
FAT4	79633	broad.mit.edu	37	4	126372503	126372503	+	Silent	SNP	C	T	T			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:126372503C>T	uc003ifj.4	+	8	10332	c.10332C>T	c.(10330-10332)atC>atT	p.I3444I	FAT4_uc011cgp.2_Silent_p.I1742I|FAT4_uc003ifi.1_Silent_p.I922I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3444	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTACTTCATCGGATCAGGGA	0.463000														83			39		0	0	0.006999	0	0
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	-	-	rs72561774		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr3:14219966_14219968delCCT	uc011ave.2	-	1	207	c.103_splice	c.e1+1	p.D35_splice	XPC_uc011avf.2_Splice_Site|XPC_uc011avg.2_Splice_Site_p.D35_splice|LSM3_uc003byn.3_5'Flank	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	35	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				---	73	---	---	9	---					
FAM149A	25854	broad.mit.edu	37	4	187074920	187074921	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr4:187074920_187074921delAG	uc003iyt.4	+	4	787_788	c.208_209delAG	c.(208-210)agafs	p.R70fs	FAM149A_uc011cla.1_Frame_Shift_Del_p.R70fs|FAM149A_uc010isj.2_Frame_Shift_Del_p.R70fs|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc010isl.3_Frame_Shift_Del_p.R70fs|FAM149A_uc011clb.2_Frame_Shift_Del_p.R70fs	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	361										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CAGCAACATCAGAGAGTATGTT	0.485													---	131	---	---	39	---					
GUSB	2990	broad.mit.edu	37	7	65447032	65447048	+	Frame_Shift_Del	DEL	AGCTCCAGAGGCCGTCC	-	-			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:65447032_65447048delAGCTCCAGAGGCCGTCC	uc003tun.3	-	0	254_270	c.123_139delGGACGGCCTCTGGAGCT	c.(121-141)ctggacggcctctggagcttcfs	p.L41fs	GUSB_uc011kdt.2_Frame_Shift_Del_p.L41fs|GUSB_uc010kzw.2_5'UTR	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	41					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCGGCGCGGAAGCTCCAGAGGCCGTCCAGCTCCTTGC	0.733													---	42	---	---	10	---					
PRKAR2B	5577	broad.mit.edu	37	7	106685616	106685618	+	In_Frame_Del	DEL	GGA	-	-			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:106685616_106685618delGGA	uc003vdx.3	+	0	439_441	c.264_266delGGA	c.(262-267)ggggag>ggg	p.E92del		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	92	Dimerization and phosphorylation.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CCGAGGACGGGGAGGAGGAGGAG	0.754													---	4	---	---	2	---					
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	Frame_Shift_Del	DEL	C	-	-	rs11353848		TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr7:149518533delC	uc010lpk.3	+	87	12593	c.12593delC	c.(12592-12594)tccfs	p.S4198fs	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4201	TSP type-1 19.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711													---	4	---	---	3	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-DA-A1I4-06A-11D-A196-08	TCGA-DA-A1I4-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8fa4fa2-b533-4d77-8522-ee29bbf2cb94	d574b360-78b4-4cfb-9c89-90acbff0a4b7	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	6	---	---	3	---